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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd21 | esv29939 | copy number variation | Yes | GRCh37.p13 | NC_000016.9 | 16 | 15048676 | 15089918 | Remapped | 1 | |||||||||||
estd21 | esv29939 | copy number variation | Yes | GRCh37.p13 | NC_000016.9 | 16 | 15048676 | 15089918 | Remapped | 1 | |||||||||||
estd21 | esv29939 | copy number variation | Yes | GRCh38.p12 | NC_000016.10 | 16 | 14954819 | 14996061 | Remapped | 1 | |||||||||||
estd21 | esv29939 | copy number variation | Yes | NCBI36 (hg18) | NC_000016.8 | 16 | 14956177 | 14997419 | Submitted genomic | ||||||||||||
estd21 | esv29940 | copy number variation | Yes | GRCh37.p13 | NC_000001.10 | 1 | 248727899 | 248808428 | Remapped | 1 | |||||||||||
estd21 | esv29940 | copy number variation | Yes | GRCh37.p13 | NC_000001.10 | 1 | 248727899 | 248808428 | Remapped | 1 | |||||||||||
estd21 | esv29940 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 248564598 | 248645127 | Remapped | 1 | |||||||||||
estd21 | esv29940 | copy number variation | Yes | NCBI36 (hg18) | NC_000001.9 | 1 | 246794522 | 246875051 | Submitted genomic | ||||||||||||
estd21 | esv29941 | copy number variation | Yes | GRCh37.p13 | NC_000005.9 | 5 | 692859 | 773103 | Remapped | 1 | |||||||||||
estd21 | esv29941 | copy number variation | Yes | GRCh37.p13 | NC_000005.9 | 5 | 692859 | 773103 | Remapped | 1 | |||||||||||
estd21 | esv29941 | copy number variation | Yes | GRCh38.p12 | NC_000005.10 | 5 | 692744 | 772988 | Remapped | 1 | |||||||||||
estd21 | esv29941 | copy number variation | Yes | NCBI36 (hg18) | NC_000005.8 | 5 | 745859 | 826103 | Submitted genomic | ||||||||||||
estd21 | esv29942 | copy number variation | Yes | GRCh37.p13 | NC_000003.11 | 3 | 162514534 | 162619141 | Remapped | 1 | |||||||||||
estd21 | esv29942 | copy number variation | Yes | GRCh37.p13 | NC_000003.11 | 3 | 162514534 | 162619141 | Remapped | 1 | |||||||||||
estd21 | esv29942 | copy number variation | Yes | GRCh38.p12 | NC_000003.12 | 3 | 162796746 | 162901353 | Remapped | 1 | |||||||||||
estd21 | esv29942 | copy number variation | Yes | NCBI36 (hg18) | NC_000003.10 | 3 | 163997228 | 164101835 | Submitted genomic | ||||||||||||
estd21 | esv29943 | copy number variation | Yes | GRCh37.p13 | NC_000014.8 | 14 | 22565588 | 22942482 | Remapped | 1 | |||||||||||
estd21 | esv29943 | copy number variation | Yes | GRCh37.p13 | NC_000014.8 | 14 | 22565588 | 22942482 | Remapped | 1 | |||||||||||
estd21 | esv29943 | copy number variation | Yes | GRCh38.p12 | NC_000014.9 | 14 | 22097311 | 22473492 | Remapped | 0.99811 | |||||||||||
estd21 | esv29943 | copy number variation | Yes | NCBI36 (hg18) | NC_000014.7 | 14 | 21635428 | 22012322 | Submitted genomic | ||||||||||||
estd21 | esv29944 | copy number variation | Yes | GRCh37.p13 | NC_000011.9 | 11 | 55368154 | 55450788 | Remapped | 1 | |||||||||||
estd21 | esv29944 | copy number variation | Yes | GRCh37.p13 | NC_000011.9 | 11 | 55368154 | 55450788 | Remapped | 1 | |||||||||||
estd21 | esv29944 | copy number variation | Yes | GRCh38.p12 | NC_000011.10 | 11 | 55600678 | 55683312 | Remapped | 1 | |||||||||||
estd21 | esv29944 | copy number variation | Yes | NCBI36 (hg18) | NC_000011.8 | 11 | 55124730 | 55207364 | Submitted genomic | ||||||||||||
estd21 | esv29945 | copy number variation | Yes | GRCh37.p13 | NC_000014.8 | 14 | 74001651 | 74044429 | Remapped | 1 | |||||||||||
estd21 | esv29945 | copy number variation | Yes | GRCh37.p13 | NC_000014.8 | 14 | 74001651 | 74044429 | Remapped | 1 | |||||||||||
estd21 | esv29945 | copy number variation | Yes | GRCh38.p12 | NC_000014.9 | 14 | 73534947 | 73577725 | Remapped | 1 | |||||||||||
estd21 | esv29945 | copy number variation | Yes | NCBI36 (hg18) | NC_000014.7 | 14 | 73071404 | 73114182 | Submitted genomic | ||||||||||||
estd21 | esv29946 | copy number variation | Yes | GRCh37.p13 | NC_000007.13 | 7 | 38315240 | 38352444 | Remapped | 1 | |||||||||||
estd21 | esv29946 | copy number variation | Yes | GRCh37.p13 | NC_000007.13 | 7 | 38315240 | 38352444 | Remapped | 1 | |||||||||||
estd21 | esv29946 | copy number variation | Yes | GRCh38.p12 | NC_000007.14 | 7 | 38275639 | 38312843 | Remapped | 1 | |||||||||||
estd21 | esv29946 | copy number variation | Yes | NCBI36 (hg18) | NC_000007.12 | 7 | 38281765 | 38318969 | Submitted genomic | ||||||||||||
estd21 | esv29947 | copy number variation | Yes | GRCh37.p13 | NC_000022.10 | 22 | 39359112 | 39385485 | Remapped | 1 | |||||||||||
estd21 | esv29947 | copy number variation | Yes | GRCh37.p13 | NC_000022.10 | 22 | 39359112 | 39385485 | Remapped | 1 | |||||||||||
estd21 | esv29947 | copy number variation | Yes | GRCh38.p12 | NC_000022.11 | 22 | 38963107 | 38989480 | Remapped | 1 | |||||||||||
estd21 | esv29947 | copy number variation | Yes | NCBI36 (hg18) | NC_000022.9 | 22 | 37689058 | 37715431 | Submitted genomic | ||||||||||||
estd21 | esv29948 | copy number variation | Yes | GRCh37.p13 | NC_000001.10 | 1 | 16948127 | 17257997 | Remapped | 1 | |||||||||||
estd21 | esv29948 | copy number variation | Yes | GRCh37.p13 | NC_000001.10 | 1 | 16948127 | 17257997 | Remapped | 1 | |||||||||||
estd21 | esv29948 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 16621632 | 16931502 | Remapped | 1 | |||||||||||
estd21 | esv29948 | copy number variation | Yes | NCBI36 (hg18) | NC_000001.9 | 1 | 16820714 | 17130584 | Submitted genomic | ||||||||||||
estd21 | esv29949 | copy number variation | Yes | GRCh37.p13 | NC_000001.10 | 1 | 25609449 | 25663551 | Remapped | 1 | |||||||||||
estd21 | esv29949 | copy number variation | Yes | GRCh37.p13 | NC_000001.10 | 1 | 25609449 | 25663551 | Remapped | 1 | |||||||||||
estd21 | esv29949 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 25282958 | 25337060 | Remapped | 1 | |||||||||||
estd21 | esv29949 | copy number variation | Yes | NCBI36 (hg18) | NC_000001.9 | 1 | 25482036 | 25536138 | Submitted genomic | ||||||||||||
estd21 | esv29950 | copy number variation | Yes | GRCh37.p13 | NC_000022.10 | 22 | 24347959 | 24395353 | Remapped | 1 | |||||||||||
estd21 | esv29950 | copy number variation | Yes | GRCh37.p13 | NC_000022.10 | 22 | 24347959 | 24395353 | Remapped | 1 | |||||||||||
estd21 | esv29950 | copy number variation | Yes | GRCh38.p12 | NT_187633.1 | 22|NT_187633.1 | 242134 | 289528 | Remapped | 1 | |||||||||||
estd21 | esv29950 | copy number variation | Yes | NCBI36 (hg18) | NC_000022.9 | 22 | 22677959 | 22725353 | Submitted genomic | ||||||||||||
estd21 | esv29951 | copy number variation | Yes | GRCh37.p13 | NC_000017.10 | 17 | 44176718 | 44289261 | Remapped | 0.91132 | |||||||||||
estd21 | esv29951 | copy number variation | Yes | GRCh37.p13 | NW_003871086.1 | 17|NW_003871086.1 | 270134 | 349823 | Remapped | 0.64529 | |||||||||||
estd21 | esv29951 | copy number variation | Yes | GRCh37.p13 | NC_000017.10 | 17 | 44176718 | 44289261 | Remapped | 0.91132 | |||||||||||
estd21 | esv29951 | copy number variation | Yes | GRCh37.p13 | NW_003871086.1 | 17|NW_003871086.1 | 270134 | 349823 | Remapped | 0.64529 | |||||||||||
estd21 | esv29951 | copy number variation | Yes | GRCh38.p12 | NC_000017.11 | 17 | 46088360 | 46211895 | Remapped | 1.00033 | |||||||||||
estd21 | esv29951 | copy number variation | Yes | GRCh38.p12 | NT_167251.2 | 17|NT_167251.2 | 1358529 | 1429492 | Remapped | 0.57463 | |||||||||||
estd21 | esv29951 | copy number variation | Yes | GRCh38.p12 | NT_187663.1 | 17|NT_187663.1 | 790461 | 914068 | Remapped | 1.00092 | |||||||||||
estd21 | esv29951 | copy number variation | Yes | NCBI36 (hg18) | NC_000017.9 | 17 | 41521544 | 41645038 | Submitted genomic | ||||||||||||
estd21 | esv29952 | copy number variation | Yes | GRCh37.p13 | NC_000016.9 | 16 | 32051472 | 33631581 | Remapped | 1 | |||||||||||
estd21 | esv29952 | copy number variation | Yes | GRCh37.p13 | NW_003871055.3 | 1|NW_003871055.3 | 103116 | 1641917 | Remapped | 0.97386 | |||||||||||
estd21 | esv29952 | copy number variation | Yes | GRCh37.p13 | NC_000016.9 | 16 | 32051472 | 33631581 | Remapped | 1 | |||||||||||
estd21 | esv29952 | copy number variation | Yes | GRCh37.p13 | NW_003871055.3 | 1|NW_003871055.3 | 103116 | 1641917 | Remapped | 0.97386 | |||||||||||
estd21 | esv29952 | copy number variation | Yes | GRCh38.p12 | NC_000016.10 | 16 | 32040151 | 33829114 | Remapped | 1.13218 | |||||||||||
estd21 | esv29952 | copy number variation | Yes | NCBI36 (hg18) | NC_000016.8 | 16 | 31958973 | 33539082 | Submitted genomic | ||||||||||||
estd21 | esv29953 | copy number variation | Yes | GRCh37.p13 | NC_000002.11 | 2 | 242953547 | 243052365 | Remapped | 1 | |||||||||||
estd21 | esv29953 | copy number variation | Yes | GRCh37.p13 | NC_000002.11 | 2 | 242953547 | 243052365 | Remapped | 1 | |||||||||||
estd21 | esv29953 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 242011396 | 242110214 | Remapped | 1 | |||||||||||
estd21 | esv29953 | copy number variation | Yes | GRCh38.p12 | NT_187523.1 | 2|NT_187523.1 | 55509 | 154284 | Remapped | 0.99956 | |||||||||||
estd21 | esv29953 | copy number variation | Yes | GRCh38.p12 | NT_187647.1 | 2|NT_187647.1 | 54507 | 153924 | Remapped | 1.00606 | |||||||||||
estd21 | esv29953 | copy number variation | Yes | NCBI36 (hg18) | NC_000002.10 | 2 | 242602220 | 242701038 | Submitted genomic | ||||||||||||
estd21 | esv29954 | copy number variation | Yes | GRCh37.p13 | NC_000004.11 | 4 | 70153865 | 70265015 | Remapped | 1 | |||||||||||
estd21 | esv29954 | copy number variation | Yes | GRCh37.p13 | NC_000004.11 | 4 | 70153865 | 70265015 | Remapped | 1 | |||||||||||
estd21 | esv29954 | copy number variation | Yes | GRCh38.p12 | NC_000004.12 | 4 | 69288147 | 69399297 | Remapped | 1 | |||||||||||
estd21 | esv29954 | copy number variation | Yes | NCBI36 (hg18) | NC_000004.10 | 4 | 70188454 | 70299604 | Submitted genomic | ||||||||||||
estd21 | esv29955 | copy number variation | Yes | GRCh37.p13 | NC_000014.8 | 14 | 106011715 | 106215478 | Remapped | 1 | |||||||||||
estd21 | esv29955 | copy number variation | Yes | GRCh37.p13 | NW_004166863.1 | 14|NW_004166863.1 | 208545 | 412308 | Remapped | 1 | |||||||||||
estd21 | esv29955 | copy number variation | Yes | GRCh37.p13 | NC_000014.8 | 14 | 106011715 | 106215478 | Remapped | 1 | |||||||||||
estd21 | esv29955 | copy number variation | Yes | GRCh37.p13 | NW_004166863.1 | 14|NW_004166863.1 | 208545 | 412308 | Remapped | 1 | |||||||||||
estd21 | esv29955 | copy number variation | Yes | GRCh38.p12 | NC_000014.9 | 14 | 105545378 | 105749141 | Remapped | 1 | |||||||||||
estd21 | esv29955 | copy number variation | Yes | GRCh38.p12 | NT_187600.1 | 14|NT_187600.1 | 12376 | 216910 | Remapped | 1.00378 | |||||||||||
estd21 | esv29955 | copy number variation | Yes | NCBI36 (hg18) | NC_000014.7 | 14 | 105082760 | 105286523 | Submitted genomic | ||||||||||||
estd21 | esv29956 | copy number variation | Yes | GRCh37.p13 | NC_000015.9 | 15 | 20550037 | 22141158 | Remapped | 2.42783 | |||||||||||
estd21 | esv29956 | copy number variation | Yes | GRCh37.p13 | NC_000015.9 | 15 | 20550037 | 22141158 | Remapped | 2.42783 | |||||||||||
estd21 | esv29956 | copy number variation | Yes | GRCh38.p12 | NC_000015.10 | 15 | 20344784 | 21498353 | Remapped | 1.76019 | |||||||||||
estd21 | esv29956 | copy number variation | Yes | NCBI36 (hg18) | NC_000015.8 | 15 | 18810051 | 19465418 | Submitted genomic | ||||||||||||
estd21 | esv29957 | copy number variation | Yes | GRCh37.p13 | NC_000001.10 | 1 | 152556449 | 152586281 | Remapped | 1 | |||||||||||
estd21 | esv29957 | copy number variation | Yes | GRCh37.p13 | NC_000001.10 | 1 | 152556449 | 152586281 | Remapped | 1 | |||||||||||
estd21 | esv29957 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 152583973 | 152613805 | Remapped | 1 | |||||||||||
estd21 | esv29957 | copy number variation | Yes | NCBI36 (hg18) | NC_000001.9 | 1 | 150823073 | 150852905 | Submitted genomic | ||||||||||||
estd21 | esv29958 | copy number variation | Yes | GRCh37.p13 | NC_000006.11 | 6 | 32478153 | 32521929 | Remapped | 1 | |||||||||||
estd21 | esv29958 | copy number variation | Yes | GRCh37.p13 | NC_000006.11 | 6 | 32478153 | 32521929 | Remapped | 1 | |||||||||||
estd21 | esv29958 | copy number variation | Yes | GRCh38.p12 | NC_000006.12 | 6 | 32510376 | 32554152 | Remapped | 1 | |||||||||||
estd21 | esv29958 | copy number variation | Yes | GRCh38.p12 | NT_167246.2 | 6|NT_167246.2 | 3824251 | 3995725 | Remapped | 3.91701 | |||||||||||
estd21 | esv29958 | copy number variation | Yes | NCBI36 (hg18) | NC_000006.10 | 6 | 32586131 | 32629907 | Submitted genomic | ||||||||||||
estd21 | esv29959 | copy number variation | Yes | GRCh37.p13 | NC_000009.11 | 9 | 124331557 | 124381893 | Remapped | 1 | |||||||||||
estd21 | esv29959 | copy number variation | Yes | GRCh37.p13 | NC_000009.11 | 9 | 124331557 | 124381893 | Remapped | 1 | |||||||||||
estd21 | esv29959 | copy number variation | Yes | GRCh38.p12 | NC_000009.12 | 9 | 121569278 | 121619614 | Remapped | 1 | |||||||||||
estd21 | esv29959 | copy number variation | Yes | NCBI36 (hg18) | NC_000009.10 | 9 | 123371378 | 123421714 | Submitted genomic | ||||||||||||
estd21 | esv29960 | copy number variation | Yes | GRCh37.p13 | NC_000004.11 | 4 | 69375140 | 69483277 | Remapped | 1 | |||||||||||
estd21 | esv29960 | copy number variation | Yes | GRCh37.p13 | NC_000004.11 | 4 | 69375140 | 69483277 | Remapped | 1 | |||||||||||
estd21 | esv29960 | copy number variation | Yes | GRCh38.p12 | NC_000004.12 | 4 | 68509422 | 68617559 | Remapped | 1 | |||||||||||
estd21 | esv29960 | copy number variation | Yes | NCBI36 (hg18) | NC_000004.10 | 4 | 69057735 | 69165872 | Submitted genomic |