人群CNV、单倍剂量不足基因DDG2P数据库文件

#population_cnv_id chr start end deletion_observations deletion_frequency deletion_standard_error duplication_observations duplication_frequency duplication_standard_error observations frequency standard_error type sample_size study 1 1 10529 177368 0 0 1 3 0.075 0.555277708 3 0.075 0.555277708 1 40 42M calls 2 1 13516 91073 0 0 1 27 0.675 0.109713431 27 0.675 0.109713431 1 40 42M calls 3 1 18888 35451 0 0 1 2 0.002366864 0.706269473 2 0.002366864 0.706269473 1 845 DDD 4 1 23946 88271 27 0.031952663 0.189350482 21 0.024852071 0.215489247 48 0.056804734 0.140178106 0 845 DDD 5 1 25112 233565 16 0.018934911 0.247621825 14 0.016568047 0.265037996 30 0.035502959 0.179303936 0 845 DDD 6 1 30322 35509 1 0.001183432 0.999408109 1 0.001183432 0.999408109 2 0.002366864 0.706269473 0 845 DDD 7 1 35462 35534 0 0 1 1 0.001183432 0.999408109 1 0.001183432 0.999408109 1 845 DDD 8 1 40718 731985 38 0.044970414 0.158531882 49 0.057988166 0.138653277 87 0.10295858 0.101542213 0 845 DDD 9 1 61735 98602 0 0 1 2 0.000337895 0.706987307 2 0.000337895 0.706987307 1 5919 Affy6 10 1 69481 89430 0 0 1 3 0.003550296 0.576324476 3 0.003550296 0.576324476 1 845 DDD 11 1 81136 90347 1 0.001183432 0.999408109 0 0 1 1 0.001183432 0.999408109 -1 845 DDD 12 1 83177 92104 0 0 1 3 0.075 0.555277708 3 0.075 0.555277708 1 40 42M calls 13 1 87433 89163 1 0.025 0.987420883 0 0 1 1 0.025 0.987420883 -1 40 42M calls 14 1 87433 89163 4 0.008888889 0.497772817 0 0 1 4 0.008888889 0.497772817 -1 450 42M genotyped 15 1 87446 109121 1 0.025 0.987420883 0 0 1 1 0.025 0.987420883 -1 40 42M calls 16 1 136206 137762 4 0.1 0.474341649 0 0 1 4 0.1 0.474341649 -1 40 42M calls 17 1 156721 236932 0 0 1 5 0.00591716 0.445888515 5 0.00591716 0.445888515 1 845 DDD 18 1 227447 267541 0 0 1 3 0.075 0.555277708 3 0.075 0.555277708 1 40 42M calls 19 1 317770 328037 0 0 1 5 0.011111111 0.444722135 5 0.011111111 0.444722135 1 450 42M genotyped 20 1 317770 349527 0 0 1 3 0.075 0.555277708 3 0.075 0.555277708 1 40 42M calls 21 1 317770 471337 0 0 1 1 0.025 0.987420883 1 0.025 0.987420883 1 40 42M calls 22 1 326302 327172 1 0.025 0.987420883 0 0 1 1 0.025 0.987420883 -1 40 42M calls 23 1 351377 404070 0 0 1 6 0.15 0.376386326 6 0.15 0.376386326 1 40 42M calls 24 1 359638 470259 11 0.275 0.256727659 3 0.075 0.555277708 14 0.35 0.215472902 0 40 42M calls 25 1 444338 449236 0 0 1 1 0.025 0.987420883 1 0.025 0.987420883 1 40 42M calls 26 1 449343 450574 5 0.125 0.418330013 0 0 1 5 0.125 0.418330013 -1 40 42M calls 27 1 461415 471337 0 0 1 1 0.025 0.987420883 1 0.025 0.987420883 1 40 42M calls 28 1 464701 641259 10 0.01183432 0.314351027 1 0.001183432 0.999408109 11 0.013017751 0.299542416 0 845 DDD 29 1 468739 471337 1 0.025 0.987420883 0 0 1 1 0.025 0.987420883 -1 40 42M calls 30 1 521413 522531 0 0 1 1 0.025 0.987420883 1 0.025 0.987420883 1 40 42M calls 31 1 521629 582245 11 0.275 0.256727659 1 0.025 0.987420883 12 0.3 0.241522946 0 40 42M calls 32 1 527921 703658 0 0 1 5 0.125 0.418330013 5 0.125 0.418330013 1 40 42M calls 33 1 546632 547869 2 0.05 0.689202438 0 0 1 2 0.05 0.689202438 -1 40 42M calls 34 1 564405 568757 4 0.004733728 0.498815164 0 0 1 4 0.004733728 0.498815164 -1 845 DDD 35 1 564540 570404 0 0 1 409 0.908888889 0.014925333 409 0.908888889 0.014925333 1 450 42M genotyped 36 1 564777 570652 2 0.05 0.689202438 12 0.3 0.241522946 14 0.35 0.215472902 0 40 42M calls 37 1 565259 811596 12 0.014201183 0.286618041 6 0.007100592 0.406796306 18 0.021301775 0.233178309 0 845 DDD 38 1 570384 573894 2 0.05 0.689202438 0 0 1 2 0.05 0.689202438 -1 40 42M calls 39 1 570384 588153 1 0.025 0.987420883 0 0 1 1 0.025 0.987420883 -1 40 42M calls 40 1 586391 636915 0 0 1 5 0.125 0.418330013 5 0.125 0.418330013 1 40 42M calls 41 1 586571 592340 0 0 1 1 0.025 0.987420883 1 0.025 0.987420883 1 40 42M calls 42 1 586571 606449 0 0 1 1 0.025 0.987420883 1 0.025 0.987420883 1 40 42M calls 43 1 587397 592340 0 0 1 1 0.025 0.987420883 1 0.025 0.987420883 1 40 42M calls 44 1 606506 607410 1 0.025 0.987420883 0 0 1 1 0.025 0.987420883 -1 40 42M calls 45 1 618487 986974 0 0 1 6 0.001013685 0.40804132 6 0.001013685 0.40804132 1 5919 Affy6 46 1 637238 724071 0 0 1 1 0.025 0.987420883 1 0.025 0.987420883 1 40 42M calls 47 1 664474 676093 2 0.05 0.689202438 0 0 1 2 0.05 0.689202438 -1 40 42M calls 48 1 724314 727245 0 0 1 5 0.011111111 0.444722135 5 0.011111111 0.444722135 1 450 42M genotyped 49 1 724323 727145 4 0.1 0.474341649 0 0 1 4 0.1 0.474341649 -1 40 42M calls 50 1 725126 762523 0 0 1 26 0.030769231 0.193075391 26 0.030769231 0.193075391 1 845 DDD 51 1 738636 742073 137 0.072410148 0.082284439 0 0 1 137 0.072410148 0.082284439 -1 1892 1G del genotyped 52 1 740857 824136 2 0.000337895 0.706987307 0 0 1 2 0.000337895 0.706987307 -1 5919 Affy6 53 1 754193 762622 0 0 1 1 0.025 0.987420883 1 0.025 0.987420883 1 40 42M calls 54 1 760892 805603 1 0.001183432 0.999408109 0 0 1 1 0.001183432 0.999408109 -1 845 DDD 55 1 766593 769112 120 0.063424947 0.088344734 0 0 1 120 0.063424947 0.088344734 -1 1892 1G del genotyped 56 1 768793 792480 5 0.000844737 0.447024667 0 0 1 5 0.000844737 0.447024667 -1 5919 Affy6 57 1 776769 791881 16 0.00845666 0.248940673 0 0 1 16 0.00845666 0.248940673 -1 1892 1G del genotyped 58 1 779727 787354 1 0.001183432 0.999408109 0 0 1 1 0.001183432 0.999408109 -1 845 DDD 59 1 794595 861577 0 0 1 1 0.001183432 0.999408109 1 0.001183432 0.999408109 1 845 DDD 60 1 796161 850687 0 0 1 2 0.000337895 0.706987307 2 0.000337895 0.706987307 1 5919 Affy6 61 1 804456 904607 0 0 1 1 0.000168947 0.999915523 1 0.000168947 0.999915523 1 5919 Affy6 62 1 869322 870347 12 0.3 0.241522946 24 0.6 0.129099445 36 0.9 0.052704628 0 40 42M calls 63 1 873417 874049 183 0.096723044 0.070256243 0 0 1 183 0.096723044 0.070256243 -1 1892 1G del genotyped 64 1 876418 879967 0 0 1 1 0.001183432 0.999408109 1 0.001183432 0.999408109 1 845 DDD 65 1 894356 896949 0 0 1 3 0.003550296 0.576324476 3 0.003550296 0.576324476 1 845 DDD 66 1 895996 896199 0 0 1 1 0.001183432 0.999408109 1 0.001183432 0.999408109 1 845 DDD 67 1 896011 896936 1 0.001183432 0.999408109 27 0.031952663 0.189350482 28 0.033136095 0.185824793 0 845 DDD 68 1 896775 896949 0 0 1 1 0.001183432 0.999408109 1 0.001183432 0.999408109 1 845 DDD 69 1 897119 897175 0 0 1 2 0.002366864 0.706269473 2 0.002366864 0.706269473 1 845 DDD 70 1 905899 905944 3 0.003550296 0.576324476 0 0 1 3 0.003550296 0.576324476 -1 845 DDD 71 1 905899 906347 1 0.001183432 0.999408109 0 0 1 1 0.001183432 0.999408109 -1 845 DDD 72 1 906302 907699 0 0 1 1 0.001183432 0.999408109 1 0.001183432 0.999408109 1 845 DDD 73 1 947121 948001 150 0.079281184 0.07834619 0 0 1 150 0.079281184 0.07834619 -1 1892 1G del genotyped 74 1 963692 964480 6 0.15 0.376386326 0 0 1 6 0.15 0.376386326 -1 40 42M calls 75 1 981079 981238 0 0 1 2 0.002366864 0.706269473 2 0.002366864 0.706269473 1 845 DDD 76 1 982291 983003 0 0 1 1 0.001183432 0.999408109 1 0.001183432 0.999408109 1 845 DDD 77 1 982765 983003 0 0 1 1 0.001183432 0.999408109 1 0.001183432 0.999408109 1 845 DDD 78 1 1011003 1014676 11 0.275 0.256727659 1 0.025 0.987420883 12 0.3 0.241522946 0 40 42M calls 79 1 1034333 1035323 0 0 1 24 0.6 0.129099445 24 0.6 0.129099445 1 40 42M calls 80 1 1074390 1076516 0 0 1 17 0.425 0.183911744 17 0.425 0.183911744 1 40 42M calls 81 1 1137019 1138274 0 0 1 8 0.2 0.316227766 8 0.2 0.316227766 1 40 42M calls 82 1 1142719 1143140 635 0.335623679 0.032345972 0 0 1 635 0.335623679 0.032345972 -1 1892 1G del genotyped 83 1 1178394 1182042 0 0 1 3 0.003550296 0.576324476 3 0.003550296 0.576324476 1 845 DDD 84 1 1192584 1192698 1 0.001183432 0.999408109 0 0 1 1 0.001183432 0.999408109 -1 845 DDD 85 1 1216777 1226092 0 0 1 1 0.001183432 0.999408109 1 0.001183432 0.999408109 1 845 DDD 86 1 1223234 1225981 14 0.35 0.215472902 2 0.05 0.689202438 16 0.4 0.193649167 0 40 42M calls 87 1 1229970 1230217 0 0 1 1 0.001183432 0.999408109 1 0.001183432 0.999408109 1 845 DDD 88 1 1231191 1231656 0 0 1 1 0.001183432 0.999408109 1 0.001183432 0.999408109 1 845