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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd212 | essv9766642 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1417151 | 1508336 | Remapped | 1 | ||||||||
estd212 | essv9766643 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1493771 | Remapped | 1 | ||||||||
estd212 | essv9766644 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1508336 | Remapped | 1 | ||||||||
estd212 | essv9767755 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1508336 | Remapped | 1 | ||||||||
estd212 | essv9768866 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1508336 | Remapped | 1 | ||||||||
estd212 | essv9769977 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1518210 | Remapped | 1 | ||||||||
estd212 | essv9771088 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1518210 | Remapped | 1 | ||||||||
estd212 | essv9772199 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462238 | 1508336 | Remapped | 1 | ||||||||
estd212 | essv9773310 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1464822 | 1493771 | Remapped | 1 | ||||||||
estd212 | essv9774421 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1464822 | 1493771 | Remapped | 1 | ||||||||
estd212 | essv9775532 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1464822 | 1493771 | Remapped | 1 | ||||||||
estd212 | essv9776643 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1464822 | 1493771 | Remapped | 1 | ||||||||
estd212 | essv9777754 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1493771 | Remapped | 1 | ||||||||
estd212 | essv9777755 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1464822 | 1508336 | Remapped | 1 | ||||||||
estd212 | essv9778866 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1467514 | 1493771 | Remapped | 1 | ||||||||
estd212 | essv9779977 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1467514 | 1508336 | Remapped | 1 | ||||||||
estd212 | essv9781088 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1470217 | 1493771 | Remapped | 1 | ||||||||
estd212 | essv9782199 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1480468 | 1493771 | Remapped | 1 | ||||||||
estd212 | essv9783310 | copy number gain | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1624086 | 1721336 | Remapped | 1.04224 | ||||||||
estd212 | essv9784421 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1721336 | Remapped | 1 | ||||||||
estd212 | essv9785532 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1739480 | Remapped | 1 | ||||||||
estd212 | essv9786643 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1739480 | Remapped | 1 | ||||||||
estd212 | essv9787754 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741151 | Remapped | 1 | ||||||||
estd212 | essv9788865 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1493771 | Remapped | 1 | ||||||||
estd212 | essv9788866 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9789977 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9791088 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9792199 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9793310 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9794421 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9795532 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9796643 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9797754 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9798865 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9799976 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1493771 | Remapped | 1 | ||||||||
estd212 | essv9799977 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9801088 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9802199 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9803310 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9804421 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9805532 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9806643 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9807754 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9808865 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9809976 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9811087 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1508336 | Remapped | 1 | ||||||||
estd212 | essv9811088 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1688102 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9812199 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1688102 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9813310 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741101 | Remapped | 1 | ||||||||
estd212 | essv9814421 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9815532 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9816643 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9817754 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9818865 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9819976 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9821087 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9822198 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1508336 | Remapped | 1 | ||||||||
estd212 | essv9822199 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9823310 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9824421 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9825532 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9826643 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696466 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9827754 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741151 | Remapped | 1 | ||||||||
estd212 | essv9833309 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1508336 | Remapped | 1 | ||||||||
estd212 | essv9835598 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1508336 | Remapped | 1 | ||||||||
estd212 | essv9835710 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9835821 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9835932 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9836043 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9836154 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9836265 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9836376 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9836487 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9836598 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9836709 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1508336 | Remapped | 1 | ||||||||
estd212 | essv9836710 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9836821 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | ||||||||
estd212 | essv9836932 | copy number loss | 1 | SNP array | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | ||||||||
estd212 | esv3575582 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1624086 | 1721336 | Remapped | 1.04224 | |||||||||||
estd212 | esv3577667 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1464822 | 1493771 | Remapped | 1 | |||||||||||
estd212 | esv3577668 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1493771 | Remapped | 1 | |||||||||||
estd212 | esv3577669 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1508336 | Remapped | 1 | |||||||||||
estd212 | esv3577670 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1462110 | 1518210 | Remapped | 1 | |||||||||||
estd212 | esv3577672 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1417151 | 1508336 | Remapped | 1 | |||||||||||
estd212 | esv3577673 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1462238 | 1508336 | Remapped | 1 | |||||||||||
estd212 | esv3577674 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1464822 | 1508336 | Remapped | 1 | |||||||||||
estd212 | esv3577675 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1467514 | 1493771 | Remapped | 1 | |||||||||||
estd212 | esv3577676 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1467514 | 1508336 | Remapped | 1 | |||||||||||
estd212 | esv3577677 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1470217 | 1493771 | Remapped | 1 | |||||||||||
estd212 | esv3577678 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1480468 | 1493771 | Remapped | 1 | |||||||||||
estd212 | esv3577680 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741152 | Remapped | 1 | |||||||||||
estd212 | esv3577681 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741152 | Remapped | 1 | |||||||||||
estd212 | esv3577683 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1688102 | 1741152 | Remapped | 1 | |||||||||||
estd212 | esv3577684 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741152 | Remapped | 1 | |||||||||||
estd212 | esv3577685 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1739480 | Remapped | 1 | |||||||||||
estd212 | esv3577686 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1721336 | Remapped | 1 | |||||||||||
estd212 | esv3577687 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1685551 | 1741151 | Remapped | 1 | |||||||||||
estd212 | esv3577688 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741101 | Remapped | 1 | |||||||||||
estd212 | esv3577689 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1696466 | 1741152 | Remapped | 1 | |||||||||||
estd212 | esv3577690 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1741151 | Remapped | 1 |