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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd226 | esv3990315 | copy number variation | Yes | GRCh37.p13 | NC_000018.9 | 18 | 31923705 | 32073062 | 32515232 | 32630326 | Remapped | 1 | |||||||||
estd226 | esv3990315 | copy number variation | Yes | GRCh37.p13 | NC_000018.9 | 18 | 31923705 | 32073062 | 32515232 | 32630326 | Remapped | 1 | |||||||||
estd226 | esv3990315 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 34343741 | 34493098 | 34935268 | 35050362 | Remapped | 1 | |||||||||
estd226 | esv3990315 | copy number variation | Yes | NCBI36 (hg18) | NC_000018.8 | 18 | 30177703 | 30327060 | 30769230 | 30884324 | Submitted genomic | ||||||||||
estd226 | esv3990316 | copy number variation | Yes | GRCh37.p13 | NC_000018.9 | 18 | 14375 | 142096 | 447282 | 477510 | Remapped | 1 | |||||||||
estd226 | esv3990316 | copy number variation | Yes | GRCh37.p13 | NC_000018.9 | 18 | 14375 | 142096 | 447282 | 477510 | Remapped | 1 | |||||||||
estd226 | esv3990316 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 14375 | 142096 | 447282 | 477510 | Remapped | 1 | |||||||||
estd226 | esv3990316 | copy number variation | Yes | NCBI36 (hg18) | NC_000018.8 | 18 | 4375 | 132096 | 437282 | 467510 | Submitted genomic | ||||||||||
estd226 | esv3990317 | copy number variation | No | GRCh37.p13 | NC_000018.9 | 18 | 447282 | 477510 | 2490365 | 2547397 | Remapped | 1 | |||||||||
estd226 | esv3990317 | copy number variation | No | GRCh37.p13 | NC_000018.9 | 18 | 447282 | 477510 | 2490365 | 2547397 | Remapped | 1 | |||||||||
estd226 | esv3990317 | copy number variation | No | GRCh38.p12 | NC_000018.10 | 18 | 447282 | 447282 | 2547398 | 2547398 | Remapped | 1 | |||||||||
estd226 | esv3990317 | copy number variation | No | NCBI36 (hg18) | NC_000018.8 | 18 | 437282 | 467510 | 2480365 | 2537397 | Submitted genomic | ||||||||||
estd226 | esv3990318 | copy number variation | Yes | GRCh37.p13 | NC_000018.9 | 18 | 70277036 | 70277036 | 77982126 | 77982126 | Remapped | 1.00653 | |||||||||
estd226 | esv3990318 | copy number variation | Yes | GRCh37.p13 | NC_000018.9 | 18 | 70277036 | 70277036 | 77982126 | 77982126 | Remapped | 1.00653 | |||||||||
estd226 | esv3990318 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 72609801 | 72609801 | 80224243 | 80224243 | Remapped | 0.99469 | |||||||||
estd226 | esv3990318 | copy number variation | Yes | NCBI36 (hg18) | NC_000018.8 | 18 | 68428016 | 68533620 | 76083117 | 76083117 | Submitted genomic |