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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd20 | essv33662 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19147 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 91558 | Remapped | 1.00169 | ||||||||
estd20 | essv33784 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18502 | GRCh38.p12 | NC_000001.11 | 1 | 492433 | 535988 | Remapped | 0.55003 | ||||||||
estd20 | essv34520 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18502 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 177368 | Remapped | 1.00082 | ||||||||
estd20 | essv34559 | copy number gain | Oligo aCGH | Probe signal intensity | No | NA18502 | GRCh38.p12 | NC_000001.11 | 1 | 481868 | 501567 | Remapped | 1 | ||||||||
estd20 | essv36301 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18907 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 91558 | Remapped | 1.00169 | ||||||||
estd20 | essv36569 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA11894 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 81231 | Remapped | 1.00194 | ||||||||
estd20 | essv37554 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA11894 | GRCh38.p12 | NC_000001.11 | 1 | 357806 | 402623 | Remapped | 1 | ||||||||
estd20 | essv38590 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19257 | GRCh38.p12 | NC_000001.11 | 1 | 85841 | 91591 | Remapped | 1 | ||||||||
estd20 | essv39730 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12287 | GRCh38.p12 | NC_000001.11 | 1 | 358057 | 403231 | Remapped | 1 | ||||||||
estd20 | essv40580 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12878 | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 703597 | Remapped | 1 | ||||||||
estd20 | essv40687 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12878 | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 468332 | Remapped | 1 | ||||||||
estd20 | essv41805 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18505 | GRCh38.p12 | NC_000001.11 | 1 | 415286 | 466405 | Remapped | 1 | ||||||||
estd20 | essv42378 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18505 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 87610 | Remapped | 1.00178 | ||||||||
estd20 | essv42809 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18909 | GRCh38.p12 | NC_000001.11 | 1 | 415225 | 468806 | Remapped | 1 | ||||||||
estd20 | essv43226 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18909 | GRCh38.p12 | NC_000001.11 | 1 | 368756 | 370051 | Remapped | 1 | ||||||||
estd20 | essv43633 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18909 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 87096 | Remapped | 1.00179 | ||||||||
estd20 | essv44049 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18909 | GRCh38.p12 | NC_000001.11 | 1 | 136181 | 137811 | Remapped | 1 | ||||||||
estd20 | essv44330 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12489 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 87096 | Remapped | 1.00179 | ||||||||
estd20 | essv44378 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12489 | GRCh38.p12 | NC_000001.11 | 1 | 415645 | 460345 | Remapped | 1 | ||||||||
estd20 | essv45662 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19129 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 91558 | Remapped | 1.00169 | ||||||||
estd20 | essv47291 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18861 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 86730 | Remapped | 1.0018 | ||||||||
estd20 | essv48828 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA07037 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 80652 | Remapped | 1.00196 | ||||||||
estd20 | essv49960 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 87433 | 91967 | Remapped | 1 | ||||||||
estd20 | essv50095 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 368756 | 369481 | Remapped | 1 | ||||||||
estd20 | essv51842 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12006 | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 587151 | Remapped | 1 | ||||||||
estd20 | essv52357 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12006 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 177368 | Remapped | 1.00082 | ||||||||
estd20 | essv52394 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12006 | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 357922 | Remapped | 1 | ||||||||
estd20 | essv52614 | copy number gain | Oligo aCGH | Probe signal intensity | No | NA12006 | GRCh38.p12 | NC_000001.11 | 1 | 467422 | 501567 | Remapped | 1 | ||||||||
estd20 | essv52746 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12006 | GRCh38.p12 | NC_000001.11 | 1 | 357962 | 402683 | Remapped | 1 | ||||||||
estd20 | essv53480 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18508 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 86730 | Remapped | 1.0018 | ||||||||
estd20 | essv54463 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA19099 | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 350598 | Remapped | 1 | ||||||||
estd20 | essv54600 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19099 | GRCh38.p12 | NC_000001.11 | 1 | 415286 | 466405 | Remapped | 1 | ||||||||
estd20 | essv55129 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19099 | GRCh38.p12 | NC_000001.11 | 1 | 350693 | 381995 | Remapped | 1 | ||||||||
estd20 | essv55201 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19099 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 87005 | Remapped | 1.00179 | ||||||||
estd20 | essv56490 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12776 | GRCh38.p12 | NC_000001.11 | 1 | 358777 | 403880 | Remapped | 1 | ||||||||
estd20 | essv56500 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12776 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 79204 | Remapped | 1.002 | ||||||||
estd20 | essv57028 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA11993 | GRCh38.p12 | NC_000001.11 | 1 | 492165 | 493035 | Remapped | 1 | ||||||||
estd20 | essv57440 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA11993 | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 629078 | Remapped | 1 | ||||||||
estd20 | essv57522 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA11993 | GRCh38.p12 | NC_000001.11 | 1 | 136226 | 137811 | Remapped | 1 | ||||||||
estd20 | essv57736 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA11993 | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 401873 | Remapped | 1 | ||||||||
estd20 | essv57788 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA11993 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 89163 | Remapped | 1.00174 | ||||||||
estd20 | essv58239 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA19108 | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 629202 | Remapped | 1 | ||||||||
estd20 | essv59014 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19108 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 86730 | Remapped | 1.0018 | ||||||||
estd20 | essv59180 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA19108 | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 394892 | Remapped | 1 | ||||||||
estd20 | essv60177 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18523 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 177368 | Remapped | 1.00082 | ||||||||
estd20 | essv60536 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18523 | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 501567 | Remapped | 1 | ||||||||
estd20 | essv61349 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 81829 | Remapped | 1.00192 | ||||||||
estd20 | essv61704 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 357493 | 403110 | Remapped | 1 | ||||||||
estd20 | essv62546 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 370101 | 374999 | Remapped | 1 | ||||||||
estd20 | essv63424 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 368826 | 370051 | Remapped | 1 | ||||||||
estd20 | essv63480 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA15510 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 92013 | Remapped | 1.00168 | ||||||||
estd20 | essv65410 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19240 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 91591 | Remapped | 1.00169 | ||||||||
estd20 | essv66767 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12828 | GRCh38.p12 | NC_000001.11 | 1 | 491300 | 501567 | Remapped | 1 | ||||||||
estd20 | essv66858 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12828 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 90440 | Remapped | 1.00172 | ||||||||
estd20 | essv68486 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18858 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 87845 | Remapped | 1.00177 | ||||||||
estd20 | essv68520 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA18858 | GRCh38.p12 | NC_000001.11 | 1 | 358593 | 402443 | Remapped | 1 | ||||||||
estd20 | essv69266 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA12044 | GRCh38.p12 | NC_000001.11 | 1 | 136226 | 137326 | Remapped | 1 | ||||||||
estd20 | essv70845 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18916 | GRCh38.p12 | NC_000001.11 | 1 | 368756 | 369481 | Remapped | 1 | ||||||||
estd20 | essv72246 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19225 | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 461680 | Remapped | 1 | ||||||||
estd20 | essv72287 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19225 | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 705105 | Remapped | 1 | ||||||||
estd20 | essv72505 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19225 | GRCh38.p12 | NC_000001.11 | 1 | 82705 | 92162 | Remapped | 1 | ||||||||
estd20 | essv73333 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA12156 | GRCh38.p12 | NC_000001.11 | 1 | 136436 | 137326 | Remapped | 1 | ||||||||
estd20 | essv75141 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12004 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 92392 | Remapped | 1.00168 | ||||||||
estd20 | essv75529 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12414 | GRCh38.p12 | NC_000001.11 | 1 | 87433 | 89163 | Remapped | 1 | ||||||||
estd20 | essv75601 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12414 | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 629078 | Remapped | 1 | ||||||||
estd20 | essv75636 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12414 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 81448 | Remapped | 1.00193 | ||||||||
estd20 | essv76138 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12414 | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 415225 | Remapped | 1 | ||||||||
estd20 | essv76744 | copy number loss | Oligo aCGH | Probe signal intensity | No | NA18511 | GRCh38.p12 | NC_000001.11 | 1 | 368756 | 369481 | Remapped | 1 | ||||||||
estd20 | essv76745 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18511 | GRCh38.p12 | NC_000001.11 | 1 | 40401 | 87433 | Remapped | 1 | ||||||||
estd20 | essv76801 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA18511 | GRCh38.p12 | NC_000001.11 | 1 | 87446 | 109121 | Remapped | 1 | ||||||||
estd20 | essv77117 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18511 | GRCh38.p12 | NC_000001.11 | 1 | 415541 | 466579 | Remapped | 1 | ||||||||
estd20 | essv77852 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA06985 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 79589 | Remapped | 1.00199 | ||||||||
estd20 | essv78929 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12749 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 81298 | Remapped | 1.00194 | ||||||||
estd20 | essv79246 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12749 | GRCh38.p12 | NC_000001.11 | 1 | 358057 | 403494 | Remapped | 1 | ||||||||
estd20 | essv82243 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19114 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 79864 | Remapped | 1.00198 | ||||||||
estd20 | essv82368 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA19114 | GRCh38.p12 | NC_000001.11 | 1 | 358323 | 415410 | Remapped | 1 | ||||||||
estd20 | essv82906 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19190 | GRCh38.p12 | NC_000001.11 | 1 | 415438 | 467743 | Remapped | 1 | ||||||||
estd20 | essv83994 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19190 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 90440 | Remapped | 1.00172 | ||||||||
estd20 | esv10580 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 639715 | Remapped | 1 | |||||||||||
estd20 | esv10639 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 467422 | 501567 | Remapped | 1 | |||||||||||
estd20 | esv13367 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 350598 | Remapped | 1 | |||||||||||
estd20 | esv13800 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 415225 | 468806 | Remapped | 1 | |||||||||||
estd20 | esv14423 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 87433 | 89163 | Remapped | 1 | |||||||||||
estd20 | esv14573 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 415225 | Remapped | 1 | |||||||||||
estd20 | esv15038 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 87446 | 109121 | Remapped | 1 | |||||||||||
estd20 | esv15703 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 491300 | 501567 | Remapped | 1 | |||||||||||
estd20 | esv15785 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 368756 | 370051 | Remapped | 1 | |||||||||||
estd20 | esv16041 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 177368 | Remapped | 1.00082 | |||||||||||
estd20 | esv16611 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 350693 | 381995 | Remapped | 1 | |||||||||||
estd20 | esv17542 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 91591 | Remapped | 1.00169 | |||||||||||
estd20 | esv17876 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 501567 | Remapped | 1 | |||||||||||
estd20 | esv18811 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 587151 | Remapped | 1 | |||||||||||
estd20 | esv19430 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 82705 | 92162 | Remapped | 1 | |||||||||||
estd20 | esv19525 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 85841 | 91967 | Remapped | 1 | |||||||||||
estd20 | esv20178 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 136181 | 137811 | Remapped | 1 | |||||||||||
estd20 | esv20387 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 357922 | Remapped | 1 | |||||||||||
estd20 | esv20401 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 370101 | 374999 | Remapped | 1 | |||||||||||
estd20 | esv27265 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 177368 | Remapped | 1.00082 | |||||||||||
estd20 | esv27883 | sequence alteration | No | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 501567 | Remapped | 1 | |||||||||||
estd20 | esv9873 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 492165 | 493035 | Remapped | 1 |