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| Study ID | Variant ID | Variant Region type | Variant Call type | Sampleset ID | Method | Analysis ID | Validation | Variant samples | Subject phenotype | Clinical Interpretation | Assembly | Accession | Chr | Outer-Start | Start | Inner-Start | Inner-End | End | Outer-End | Placement Type | Remap Score |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| estd20 | esv10036 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 933930 | 934967 | Remapped | 1 | |||||||||||
| estd20 | esv10077 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 2767708 | 2778413 | Remapped | 1 | |||||||||||
| estd20 | esv10423 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1427050 | 1428156 | Remapped | 1 | |||||||||||
| estd20 | esv10580 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 639715 | Remapped | 1 | |||||||||||
| estd20 | esv10639 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 467422 | 501567 | Remapped | 1 | |||||||||||
| estd20 | esv10745 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 1099028 | 1099823 | Remapped | 1 | |||||||||||
| estd20 | esv11756 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 1479529 | 1480815 | Remapped | 1 | |||||||||||
| estd20 | esv11880 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3299096 | 3300546 | Remapped | 1 | |||||||||||
| estd20 | esv12016 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 2700543 | 2702743 | Remapped | 1 | |||||||||||
| estd20 | esv12176 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2459119 | 2459863 | Remapped | 1 | |||||||||||
| estd20 | esv12525 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 629160 | 635024 | Remapped | 1 | |||||||||||
| estd20 | esv12712 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3167388 | 3168323 | Remapped | 1 | |||||||||||
| estd20 | esv12744 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 2634485 | 2635320 | Remapped | 1 | |||||||||||
| estd20 | esv12770 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 586173 | 608427 | Remapped | 1 | |||||||||||
| estd20 | esv12824 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 2683253 | 2702743 | Remapped | 1 | |||||||||||
| estd20 | esv13049 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1138999 | 1140737 | Remapped | 1 | |||||||||||
| estd20 | esv13192 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1981496 | 1982491 | Remapped | 1 | |||||||||||
| estd20 | esv13258 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3583168 | 3584067 | Remapped | 1 | |||||||||||
| estd20 | esv13367 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 350598 | Remapped | 1 | |||||||||||
| estd20 | esv13800 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 415225 | 468806 | Remapped | 1 | |||||||||||
| estd20 | esv14081 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1201623 | 1202903 | Remapped | 1 | |||||||||||
| estd20 | esv14423 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 87433 | 89163 | Remapped | 1 | |||||||||||
| estd20 | esv14573 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 415225 | Remapped | 1 | |||||||||||
| estd20 | esv14645 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1075808 | 1079448 | Remapped | 1 | |||||||||||
| estd20 | esv14965 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 818813 | 827242 | Remapped | 1 | |||||||||||
| estd20 | esv15038 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 87446 | 109121 | Remapped | 1 | |||||||||||
| estd20 | esv15071 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1605550 | 1606590 | Remapped | 1 | |||||||||||
| estd20 | esv15167 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2458774 | 2459679 | Remapped | 1 | |||||||||||
| estd20 | esv15600 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 2123518 | 2124371 | Remapped | 1 | |||||||||||
| estd20 | esv15703 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 491300 | 501567 | Remapped | 1 | |||||||||||
| estd20 | esv15785 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 368756 | 370051 | Remapped | 1 | |||||||||||
| estd20 | esv16041 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 177368 | Remapped | 1.00082 | |||||||||||
| estd20 | esv16417 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 671126 | 672030 | Remapped | 1 | |||||||||||
| estd20 | esv16589 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 2652208 | 2656908 | Remapped | 1 | |||||||||||
| estd20 | esv16611 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 350693 | 381995 | Remapped | 1 | |||||||||||
| estd20 | esv16667 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2093104 | 2095964 | Remapped | 1 | |||||||||||
| estd20 | esv17032 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1978938 | 1982491 | Remapped | 1 | |||||||||||
| estd20 | esv17045 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 635004 | 638542 | Remapped | 1 | |||||||||||
| estd20 | esv17198 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 1632502 | 1752267 | Remapped | 1.03404 | |||||||||||
| estd20 | esv17284 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 701858 | 788691 | Remapped | 1 | |||||||||||
| estd20 | esv17542 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 91591 | Remapped | 1.00169 | |||||||||||
| estd20 | esv17593 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 788934 | 791865 | Remapped | 1 | |||||||||||
| estd20 | esv17670 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 651191 | 656960 | Remapped | 1 | |||||||||||
| estd20 | esv17876 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 501567 | Remapped | 1 | |||||||||||
| estd20 | esv17928 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 650975 | 724593 | Remapped | 1 | |||||||||||
| estd20 | esv17998 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 635004 | 652773 | Remapped | 1 | |||||||||||
| estd20 | esv18116 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 2641812 | 2702743 | Remapped | 1 | |||||||||||
| estd20 | esv18512 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 2121522 | 2124536 | Remapped | 1 | |||||||||||
| estd20 | esv18811 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 587151 | Remapped | 1 | |||||||||||
| estd20 | esv18850 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3180899 | 3182239 | Remapped | 1 | |||||||||||
| estd20 | esv18879 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 611243 | 612499 | Remapped | 1 | |||||||||||
| estd20 | esv19173 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 651191 | 671069 | Remapped | 1 | |||||||||||
| estd20 | esv19242 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1350020 | 1351520 | Remapped | 1 | |||||||||||
| estd20 | esv19351 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 729032 | 740738 | Remapped | 1 | |||||||||||
| estd20 | esv19430 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 82705 | 92162 | Remapped | 1 | |||||||||||
| estd20 | esv19525 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 85841 | 91967 | Remapped | 1 | |||||||||||
| estd20 | esv19930 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1028279 | 1029100 | Remapped | 1 | |||||||||||
| estd20 | esv19931 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 2767708 | 2768253 | Remapped | 1 | |||||||||||
| estd20 | esv20178 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 136181 | 137811 | Remapped | 1 | |||||||||||
| estd20 | esv20220 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3165143 | 3166242 | Remapped | 1 | |||||||||||
| estd20 | esv20387 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 357922 | Remapped | 1 | |||||||||||
| estd20 | esv20401 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 370101 | 374999 | Remapped | 1 | |||||||||||
| estd20 | esv20675 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2280621 | 2282736 | Remapped | 1 | |||||||||||
| estd20 | esv20786 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1288179 | 1290314 | Remapped | 1 | |||||||||||
| estd20 | esv20880 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 775465 | Remapped | 1 | |||||||||||
| estd20 | esv21134 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 1978938 | 1980478 | Remapped | 1 | |||||||||||
| estd20 | esv21190 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 2656483 | 2683198 | Remapped | 1 | |||||||||||
| estd20 | esv21208 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 2976230 | 2978355 | Remapped | 1 | |||||||||||
| estd20 | esv21732 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 788691 | Remapped | 1 | |||||||||||
| estd20 | esv21805 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 2634485 | 2702743 | Remapped | 1 | |||||||||||
| estd20 | esv22281 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 3299096 | 3300546 | Remapped | 1 | |||||||||||
| estd20 | esv22780 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 2280621 | 2282736 | Remapped | 1 | |||||||||||
| estd20 | esv22935 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 3165143 | 3166242 | Remapped | 1 | |||||||||||
| estd20 | esv23086 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 2767708 | 2778413 | Remapped | 1 | |||||||||||
| estd20 | esv23529 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 1099028 | 1099823 | Remapped | 1 | |||||||||||
| estd20 | esv23829 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 1605550 | 1606590 | Remapped | 1 | |||||||||||
| estd20 | esv23965 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 1350020 | 1351520 | Remapped | 1 | |||||||||||
| estd20 | esv24081 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 1201623 | 1202903 | Remapped | 1 | |||||||||||
| estd20 | esv24333 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 1427050 | 1428156 | Remapped | 1 | |||||||||||
| estd20 | esv25107 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 3167388 | 3168323 | Remapped | 1 | |||||||||||
| estd20 | esv25372 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 1288179 | 1290314 | Remapped | 1 | |||||||||||
| estd20 | esv25503 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 2976230 | 2978355 | Remapped | 1 | |||||||||||
| estd20 | esv25575 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 1978938 | 1982491 | Remapped | 1 | |||||||||||
| estd20 | esv25577 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 1075808 | 1079448 | Remapped | 1 | |||||||||||
| estd20 | esv25748 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 2458774 | 2459863 | Remapped | 1 | |||||||||||
| estd20 | esv25832 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 1479529 | 1480815 | Remapped | 1 | |||||||||||
| estd20 | esv26272 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 788934 | 791865 | Remapped | 1 | |||||||||||
| estd20 | esv26506 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 1138999 | 1140737 | Remapped | 1 | |||||||||||
| estd20 | esv26913 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 2121522 | 2124536 | Remapped | 1 | |||||||||||
| estd20 | esv26942 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 3180899 | 3182239 | Remapped | 1 | |||||||||||
| estd20 | esv27078 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 2093104 | 2095964 | Remapped | 1 | |||||||||||
| estd20 | esv27265 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 177368 | Remapped | 1.00082 | |||||||||||
| estd20 | esv27271 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 818813 | 827242 | Remapped | 1 | |||||||||||
| estd20 | esv27608 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 933930 | 934967 | Remapped | 1 | |||||||||||
| estd20 | esv27786 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 1632502 | 1752267 | Remapped | 1.03404 | |||||||||||
| estd20 | esv27883 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 501567 | Remapped | 1 | |||||||||||
| estd20 | esv28730 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 3583168 | 3584067 | Remapped | 1 | |||||||||||
| estd20 | esv29017 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 1028279 | 1029100 | Remapped | 1 | |||||||||||
| estd20 | esv29463 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 3643681 | 3644391 | Remapped | 1 | |||||||||||
| estd20 | esv9873 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 492165 | 493035 | Remapped | 1 |