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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd216 | essv16462422 | deletion | 4 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 1449831 | 1504291 | Remapped | 1 | |||||||
estd216 | essv16462423 | deletion | 5 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 1449831 | 1504291 | Remapped | 1 | |||||||
estd216 | essv16462424 | deletion | 7 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 25271785 | 25329047 | Remapped | 1 | |||||||
estd216 | essv16462435 | deletion | 2 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 25271785 | 25329047 | Remapped | 1 | |||||||
estd216 | essv16462446 | deletion | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 25271785 | 25329047 | Remapped | 1 | ||||||||
estd216 | essv16462457 | deletion | 7 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 35902179 | 35922053 | Remapped | 1 | |||||||
estd216 | essv16462468 | duplication | 5 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 40877936 | 40912404 | Remapped | 1 | |||||||
estd216 | essv16462479 | duplication | 6 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 40877936 | 40912404 | Remapped | 1 | |||||||
estd216 | essv16462490 | deletion | 1 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 45171220 | 45179397 | Remapped | 1 | |||||||
estd216 | essv16462501 | deletion | 5 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 49462391 | 49524663 | Remapped | 1 | |||||||
estd216 | essv16462512 | deletion | 4 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 50397530 | 50409158 | Remapped | 1 | |||||||
estd216 | essv16462523 | deletion | 4 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 58558763 | 58620549 | Remapped | 1 | |||||||
estd216 | essv16462534 | deletion | 5 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 1688102 | 1732685 | Remapped | 1 | |||||||
estd216 | essv16462535 | deletion | 5 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 72545760 | 72620518 | Remapped | 1 | |||||||
estd216 | essv16462546 | duplication | 4 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 73494196 | 73528121 | Remapped | 1 | |||||||
estd216 | essv16462557 | duplication | 3 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 94401500 | 94669347 | Remapped | 1 | |||||||
estd216 | essv16462568 | deletion | 6 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 96970334 | 96988991 | Remapped | 1 | |||||||
estd216 | essv16462579 | deletion | 4 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 102201832 | 102380591 | Remapped | 1 | |||||||
estd216 | essv16462590 | deletion | 3 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 103587258 | 103668424 | Remapped | 1 | |||||||
estd216 | essv16462601 | deletion | 4 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 103587258 | 103668424 | Remapped | 1 | |||||||
estd216 | essv16462612 | deletion | 5 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 103587258 | 103668424 | Remapped | 1 | |||||||
estd216 | essv16462623 | deletion | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 103587258 | 103668424 | Remapped | 1 | ||||||||
estd216 | essv16462634 | deletion | 3 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 103611243 | 103668424 | Remapped | 1 | |||||||
estd216 | essv16462645 | deletion | 1 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 1696548 | 1732685 | Remapped | 1 | |||||||
estd216 | essv16462646 | deletion | 4 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 103611243 | 103613322 | Remapped | 1 | |||||||
estd216 | essv16462657 | deletion | 5 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 103611243 | 103668424 | Remapped | 1 | |||||||
estd216 | essv16462668 | deletion | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 103611243 | 103668424 | Remapped | 1 | ||||||||
estd216 | essv16462679 | deletion | 6 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 111383531 | 111391682 | Remapped | 1 | |||||||
estd216 | essv16462690 | deletion | 7 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 111383531 | 111401451 | Remapped | 1 | |||||||
estd216 | essv16462701 | deletion | 4 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 145672100 | 145809105 | Remapped | 1.00018 | |||||||
estd216 | essv16462712 | deletion | 6 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 145672100 | 145809105 | Remapped | 1.00018 | |||||||
estd216 | essv16462723 | deletion | 3 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143707338 | Remapped | 1.00011 | |||||||
estd216 | essv16462734 | deletion | 3 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143707338 | Remapped | 1.00011 | ||||||||
estd216 | essv16462745 | deletion | 5 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143707338 | Remapped | 1.00011 | |||||||
estd216 | essv16462756 | duplication | 7 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 2420707 | 2434877 | Remapped | 1 | |||||||
estd216 | essv16462757 | deletion | 5 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143707338 | Remapped | 1.00011 | ||||||||
estd216 | essv16462768 | deletion | 7 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143707338 | Remapped | 1.00011 | |||||||
estd216 | essv16462779 | deletion | 7 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143707338 | Remapped | 1.00011 | ||||||||
estd216 | essv16462790 | deletion | 7 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 143566021 | 143707338 | Remapped | 1.00008 | |||||||
estd216 | essv16462801 | deletion | 5 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 158783616 | 158907131 | Remapped | 1 | |||||||
estd216 | essv16462812 | deletion | 4 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 161522797 | 161531735 | Remapped | 1 | |||||||
estd216 | essv16462823 | deletion | 3 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 191864689 | 191918605 | Remapped | 1 | |||||||
estd216 | essv16462834 | deletion | 7 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 193679513 | 193715041 | Remapped | 1 | |||||||
estd216 | essv16462856 | deletion | 5 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 196854170 | 196918327 | Remapped | 1 | |||||||
estd216 | essv16462867 | duplication | 4 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 2427505 | 2438059 | Remapped | 1 | |||||||
estd216 | essv16462868 | deletion | 7 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 196854170 | 196893439 | Remapped | 1 | |||||||
estd216 | essv16462978 | duplication | 6 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 3494849 | 3514671 | Remapped | 1 | |||||||
estd216 | essv16463089 | deletion | 5 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 12820291 | 12854043 | Remapped | 1.00027 | |||||||
estd216 | essv16463200 | deletion | 3 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 15457276 | 15470313 | Remapped | 1 | |||||||
estd216 | essv16463290 | deletion | 3 | SNP array | Probe signal intensity | No | not provided | GRCh38.p12 | NC_000001.11 | 1 | 15467516 | 15487691 | Remapped | 1 | |||||||
estd216 | esv3648115 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1449831 | 1504291 | Remapped | 1 | |||||||||||
estd216 | esv3648119 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 58558763 | 58620549 | Remapped | 1 | |||||||||||
estd216 | esv3648131 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1688102 | 1732685 | Remapped | 1 | |||||||||||
estd216 | esv3648132 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 72545760 | 72620518 | Remapped | 1 | |||||||||||
estd216 | esv3648144 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 73494196 | 73528121 | Remapped | 1 | |||||||||||
estd216 | esv3648156 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 94401500 | 94669347 | Remapped | 1 | |||||||||||
estd216 | esv3648160 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 25271785 | 25329047 | Remapped | 1 | |||||||||||
estd216 | esv3648168 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 96970334 | 96988991 | Remapped | 1 | |||||||||||
estd216 | esv3648180 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 102201832 | 102380591 | Remapped | 1 | |||||||||||
estd216 | esv3648192 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 103587258 | 103668424 | Remapped | 1 | |||||||||||
estd216 | esv3648205 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 103587258 | 103668424 | Remapped | 1 | |||||||||||
estd216 | esv3648217 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 103587258 | 103668424 | Remapped | 1 | |||||||||||
estd216 | esv3648226 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1449831 | 1504291 | Remapped | 1 | |||||||||||
estd216 | esv3648230 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 103587258 | 103668424 | Remapped | 1 | |||||||||||
estd216 | esv3648242 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 103611243 | 103668424 | Remapped | 1 | |||||||||||
estd216 | esv3648254 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1696548 | 1732685 | Remapped | 1 | |||||||||||
estd216 | esv3648255 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 103611243 | 103613322 | Remapped | 1 | |||||||||||
estd216 | esv3648267 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 103611243 | 103668424 | Remapped | 1 | |||||||||||
estd216 | esv3648279 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 103611243 | 103668424 | Remapped | 1 | |||||||||||
estd216 | esv3648282 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 25271785 | 25329047 | Remapped | 1 | |||||||||||
estd216 | esv3648291 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 111383531 | 111391682 | Remapped | 1 | |||||||||||
estd216 | esv3648303 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 111383531 | 111401451 | Remapped | 1 | |||||||||||
estd216 | esv3648316 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 145672100 | 145809105 | Remapped | 1.00018 | |||||||||||
estd216 | esv3648328 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 145672100 | 145809105 | Remapped | 1.00018 | |||||||||||
estd216 | esv3648337 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 25271785 | 25329047 | Remapped | 1 | |||||||||||
estd216 | esv3648341 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143707338 | Remapped | 1.00011 | |||||||||||
estd216 | esv3648353 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143707338 | Remapped | 1.00011 | |||||||||||
estd216 | esv3648365 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143707338 | Remapped | 1.00011 | |||||||||||
estd216 | esv3648377 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2420707 | 2434877 | Remapped | 1 | |||||||||||
estd216 | esv3648378 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143707338 | Remapped | 1.00011 | |||||||||||
estd216 | esv3648390 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143707338 | Remapped | 1.00011 | |||||||||||
estd216 | esv3648402 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143707338 | Remapped | 1.00011 | |||||||||||
estd216 | esv3648404 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 35902179 | 35922053 | Remapped | 1 | |||||||||||
estd216 | esv3648414 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143566021 | 143707338 | Remapped | 1.00008 | |||||||||||
estd216 | esv3648427 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 158783616 | 158907131 | Remapped | 1 | |||||||||||
estd216 | esv3648439 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 161522797 | 161531735 | Remapped | 1 | |||||||||||
estd216 | esv3648452 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 191864689 | 191918605 | Remapped | 1 | |||||||||||
estd216 | esv3648464 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 193679513 | 193715041 | Remapped | 1 | |||||||||||
estd216 | esv3648488 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 196854170 | 196918327 | Remapped | 1 | |||||||||||
estd216 | esv3648500 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2427505 | 2438059 | Remapped | 1 | |||||||||||
estd216 | esv3648501 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 196854170 | 196893439 | Remapped | 1 | |||||||||||
estd216 | esv3648526 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 40877936 | 40912404 | Remapped | 1 | |||||||||||
estd216 | esv3648623 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3494849 | 3514671 | Remapped | 1 | |||||||||||
estd216 | esv3648648 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 40877936 | 40912404 | Remapped | 1 | |||||||||||
estd216 | esv3648746 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 12820291 | 12854043 | Remapped | 1.00027 | |||||||||||
estd216 | esv3648770 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 45171220 | 45179397 | Remapped | 1 | |||||||||||
estd216 | esv3648869 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 15457276 | 15470313 | Remapped | 1 | |||||||||||
estd216 | esv3648893 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 49462391 | 49524663 | Remapped | 1 | |||||||||||
estd216 | esv3648969 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 15467516 | 15487691 | Remapped | 1 | |||||||||||
estd216 | esv3648985 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 50397530 | 50409158 | Remapped | 1 |