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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd188 | essv4369155 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 611281 | 637806 | Remapped | 1 | ||||||||
estd188 | essv4369381 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 587643 | 637806 | Remapped | 1 | ||||||||
estd188 | essv4369497 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 608162 | 627745 | Remapped | 1 | ||||||||
estd188 | essv4369963 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18576 | GRCh38.p12 | NC_000001.11 | 1 | 675463 | 698309 | Remapped | 1 | ||||||||
estd188 | essv4369973 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18576 | GRCh38.p12 | NC_000001.11 | 1 | 608162 | 627745 | Remapped | 1 | ||||||||
estd188 | essv4370054 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18576 | GRCh38.p12 | NC_000001.11 | 1 | 611281 | 637806 | Remapped | 1 | ||||||||
estd188 | essv4370145 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 611099 | 629244 | Remapped | 1 | ||||||||
estd188 | essv4371022 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 675463 | 698309 | Remapped | 1 | ||||||||
estd188 | essv4371374 | copy number gain | Oligo aCGH | Probe signal intensity | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 594000 | 601289 | Remapped | 1 | ||||||||
estd188 | essv4371848 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 611281 | 612500 | Remapped | 1 | ||||||||
estd188 | essv4372078 | copy number gain | Oligo aCGH | Probe signal intensity | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 594000 | 601289 | Remapped | 1 | ||||||||
estd188 | essv4372530 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 611281 | 612500 | Remapped | 1 | ||||||||
estd188 | essv4372765 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18576 | GRCh38.p12 | NC_000001.11 | 1 | 611281 | 612500 | Remapped | 1 | ||||||||
estd188 | essv4373659 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 615489 | 639152 | Remapped | 1 | ||||||||
estd188 | essv4373748 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 731118 | 739624 | Remapped | 1 | ||||||||
estd188 | essv4373921 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 611281 | 612500 | Remapped | 1 | ||||||||
estd188 | essv4374069 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 611281 | 612500 | Remapped | 1 | ||||||||
estd188 | essv4374369 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 611099 | 613215 | Remapped | 1 | ||||||||
estd188 | essv4378996 | copy number loss | BAC aCGH | Probe signal intensity | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 585989 | 707652 | Remapped | 1 | ||||||||
estd188 | essv4379044 | copy number loss | BAC aCGH | Probe signal intensity | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 585989 | 707652 | Remapped | 1 | ||||||||
estd188 | essv4379064 | copy number loss | BAC aCGH | Probe signal intensity | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 585989 | 707652 | Remapped | 1 | ||||||||
estd188 | essv4382295 | copy number gain | SNP array | SNP genotyping analysis | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 1222802 | 1243545 | Remapped | 1 | ||||||||
estd188 | essv4383170 | copy number gain | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 830721 | 874393 | Remapped | 1 | ||||||||
estd188 | essv4383184 | copy number gain | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 1696479 | 1741164 | Remapped | 1 | ||||||||
estd188 | essv4383399 | copy number gain | SNP array | SNP genotyping analysis | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 830721 | 874393 | Remapped | 1 | ||||||||
estd188 | essv4383678 | copy number gain | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 830721 | 874393 | Remapped | 1 | ||||||||
estd188 | essv4383832 | copy number gain | SNP array | SNP genotyping analysis | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 1696479 | 1741164 | Remapped | 1 | ||||||||
estd188 | essv4384046 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 1199862 | 1202731 | Remapped | 1 | ||||||||
estd188 | essv4384213 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 789469 | 1076517 | Remapped | 1 | ||||||||
estd188 | essv4384362 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 934223 | 1076113 | Remapped | 1 | ||||||||
estd188 | essv4384891 | copy number loss | SNP array | SNP genotyping analysis | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 1201746 | 1217251 | Remapped | 1 | ||||||||
estd188 | essv4385482 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2121766 | 2121977 | 2124062 | 2124199 | Remapped | 1 | ||||||
estd188 | essv4385543 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 1184478 | 1202731 | Remapped | 1 | ||||||||
estd188 | essv4385597 | copy number gain | SNP array | SNP genotyping analysis | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 791657 | 1070426 | Remapped | 1 | ||||||||
estd188 | essv4385741 | copy number gain | SNP array | SNP genotyping analysis | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 833068 | 934930 | Remapped | 1 | ||||||||
estd188 | essv4385886 | copy number gain | SNP array | SNP genotyping analysis | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 1288683 | 1351426 | Remapped | 1 | ||||||||
estd188 | essv4387170 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2121766 | 2121977 | 2124062 | Remapped | 1 | |||||||
estd188 | essv4388725 | copy number loss | SNP array | SNP genotyping analysis | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 791657 | 1028484 | Remapped | 1 | ||||||||
estd188 | essv4389213 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 1076113 | Remapped | 1 | ||||||||
estd188 | essv4389234 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 934223 | 1029058 | Remapped | 1 | ||||||||
estd188 | essv4389575 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 934063 | 1028484 | 1029058 | Remapped | 1 | |||||||
estd188 | essv4389953 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2121977 | 2126584 | Remapped | 1 | ||||||||
estd188 | essv4390514 | copy number gain | SNP array | SNP genotyping analysis | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124062 | Remapped | 1 | ||||||||
estd188 | essv4390958 | copy number gain | SNP array | SNP genotyping analysis | No | NA10851 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124062 | Remapped | 1 | ||||||||
estd188 | essv4391110 | copy number gain | SNP array | SNP genotyping analysis | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124062 | Remapped | 1 | ||||||||
estd188 | essv4392431 | copy number gain | SNP array | SNP genotyping analysis | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124062 | Remapped | 1 | ||||||||
estd188 | essv4392683 | copy number gain | SNP array | SNP genotyping analysis | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124062 | Remapped | 1 | ||||||||
estd188 | essv4393120 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 934063 | 1028484 | 1029058 | Remapped | 1 | |||||||
estd188 | essv4393532 | copy number gain | SNP array | SNP genotyping analysis | No | NA10851 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124062 | Remapped | 1 | ||||||||
estd188 | essv4394487 | copy number gain | SNP array | SNP genotyping analysis | No | NA10851 | GRCh38.p12 | NC_000001.11 | 1 | 788920 | 934930 | Remapped | 1 | ||||||||
estd188 | essv4394551 | copy number gain | SNP array | SNP genotyping analysis | No | NA10851 | GRCh38.p12 | NC_000001.11 | 1 | 597166 | 612474 | Remapped | 1 | ||||||||
estd188 | essv4395196 | copy number gain | SNP array | SNP genotyping analysis | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 788920 | 791657 | Remapped | 1 | ||||||||
estd188 | essv4396054 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124199 | Remapped | 1 | ||||||||
estd188 | essv4396071 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2121766 | 2121977 | 2126584 | Remapped | 1 | |||||||
estd188 | essv4396156 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 934063 | 1029058 | Remapped | 1 | ||||||||
estd188 | essv4397144 | copy number gain | SNP array | SNP genotyping analysis | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 1288241 | 1351426 | Remapped | 1 | ||||||||
estd188 | essv4398147 | copy number gain | SNP array | SNP genotyping analysis | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 2121766 | 2124199 | Remapped | 1 | ||||||||
estd188 | essv4398810 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 934063 | 1029058 | Remapped | 1 | ||||||||
estd188 | essv4398828 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 1199862 | 1202731 | Remapped | 1 | ||||||||
estd188 | essv4399233 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2121977 | 2126584 | Remapped | 1 | ||||||||
estd188 | essv4399328 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2121977 | 2124199 | Remapped | 1 | ||||||||
estd188 | essv4399385 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2121766 | 2139901 | Remapped | 1 | ||||||||
estd188 | essv4399523 | copy number gain | SNP array | SNP genotyping analysis | No | NA10851 | GRCh38.p12 | NC_000001.11 | 1 | 590318 | 638458 | Remapped | 1 | ||||||||
estd188 | essv4399543 | copy number loss | SNP array | SNP genotyping analysis | No | NA10851 | GRCh38.p12 | NC_000001.11 | 1 | 1350050 | 1351426 | Remapped | 1 | ||||||||
estd188 | essv4399589 | copy number gain | SNP array | SNP genotyping analysis | No | NA10851 | GRCh38.p12 | NC_000001.11 | 1 | 1978932 | 1982321 | Remapped | 1 | ||||||||
estd188 | essv4399675 | copy number gain | SNP array | SNP genotyping analysis | No | NA10851 | GRCh38.p12 | NC_000001.11 | 1 | 2121766 | 2124199 | Remapped | 1 | ||||||||
estd188 | essv4401788 | copy number loss | SNP array | SNP genotyping analysis | No | NA10851 | GRCh38.p12 | NC_000001.11 | 1 | 1350050 | 1351426 | Remapped | 1 | ||||||||
estd188 | essv4401876 | copy number gain | SNP array | SNP genotyping analysis | No | NA10851 | GRCh38.p12 | NC_000001.11 | 1 | 1605577 | 1774721 | Remapped | 1.02387 | ||||||||
estd188 | essv4401979 | copy number gain | SNP array | SNP genotyping analysis | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 1275912 | 1351426 | Remapped | 1 | ||||||||
estd188 | essv4402006 | copy number gain | SNP array | SNP genotyping analysis | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 934063 | 1029058 | Remapped | 1 | ||||||||
estd188 | essv4402276 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 789469 | 1029058 | Remapped | 1 | ||||||||
estd188 | essv4402423 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 934063 | 1029058 | Remapped | 1 | ||||||||
estd188 | essv4402442 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 1199862 | 1202731 | Remapped | 1 | ||||||||
estd188 | essv4403195 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 934063 | 1029058 | Remapped | 1 | ||||||||
estd188 | essv4404213 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124099 | Remapped | 1 | ||||||||
estd188 | essv4406900 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124099 | Remapped | 1 | ||||||||
estd188 | essv4407233 | copy number loss | SNP array | SNP genotyping analysis | No | NA18576 | GRCh38.p12 | NC_000001.11 | 1 | 2122318 | 2124099 | Remapped | 1 | ||||||||
estd188 | essv4408814 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 918870 | 934930 | Remapped | 1 | ||||||||
estd188 | essv4409432 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2109324 | 2138242 | Remapped | 1 | ||||||||
estd188 | essv4409700 | copy number loss | SNP array | SNP genotyping analysis | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 934063 | 944307 | Remapped | 1 | ||||||||
estd188 | essv4410611 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2109324 | 2138242 | Remapped | 1 | ||||||||
estd188 | essv4410877 | copy number gain | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 1334343 | 1366253 | Remapped | 1 | ||||||||
estd188 | essv4411626 | copy number gain | SNP array | SNP genotyping analysis | No | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 1350050 | 1351747 | Remapped | 1 | ||||||||
estd188 | essv4412735 | copy number loss | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 1024462 | 1029058 | Remapped | 1 | ||||||||
estd188 | essv4412848 | copy number gain | SNP array | SNP genotyping analysis | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 1350050 | 1353443 | Remapped | 1 | ||||||||
estd188 | essv4413036 | copy number gain | SNP array | SNP genotyping analysis | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 1350050 | 1351426 | Remapped | 1 | ||||||||
estd188 | essv4413663 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2126584 | Remapped | 1 | ||||||||
estd188 | essv4413983 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2125296 | Remapped | 1 | ||||||||
estd188 | essv4414007 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124154 | Remapped | 1 | ||||||||
estd188 | essv4414097 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 789139 | 791708 | Remapped | 1 | ||||||||
estd188 | essv4414183 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2107293 | 2131655 | Remapped | 1 | ||||||||
estd188 | essv4414465 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2125296 | Remapped | 1 | ||||||||
estd188 | essv4415885 | copy number loss | SNP array | SNP genotyping analysis | No | NA18576 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124154 | Remapped | 1 | ||||||||
estd188 | essv4417200 | copy number gain | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124154 | Remapped | 1 | ||||||||
estd188 | essv4418770 | copy number loss | SNP array | SNP genotyping analysis | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 2122142 | 2124154 | Remapped | 1 | ||||||||
estd188 | essv4421425 | copy number gain | Oligo aCGH | Probe signal intensity | No | NA18576 | GRCh38.p12 | NC_000001.11 | 1 | 1118717 | 1385930 | Remapped | 1 | ||||||||
estd188 | essv4421519 | copy number gain | Oligo aCGH | Probe signal intensity | No | NA18576 | GRCh38.p12 | NC_000001.11 | 1 | 879905 | 1086249 | Remapped | 1 | ||||||||
estd188 | essv4422784 | copy number gain | Oligo aCGH | Probe signal intensity | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 901748 | 3818357 | Remapped | 1.00649 | ||||||||
estd188 | essv4423100 | copy number gain | Oligo aCGH | Probe signal intensity | No | NA18576 | GRCh38.p12 | NC_000001.11 | 1 | 1891631 | 3794723 | Remapped | 1.00788 | ||||||||
estd188 | essv4423186 | copy number gain | Oligo aCGH | Probe signal intensity | No | NA18576 | GRCh38.p12 | NC_000001.11 | 1 | 900270 | 1770240 | Remapped | 1.00455 |