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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 | essv36813 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA11894 | GRCh38.p12 | NC_000001.11 | 1 | 586827 | 629078 | Remapped | 1 | ||||||||
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 | essv39034 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12287 | GRCh38.p12 | NC_000001.11 | 1 | 629160 | 634908 | Remapped | 1 | ||||||||
estd20 | essv39460 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12287 | GRCh38.p12 | NC_000001.11 | 1 | 586732 | 629078 | 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 | essv44179 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12489 | GRCh38.p12 | NC_000001.11 | 1 | 611338 | 612499 | 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 | essv51804 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12006 | GRCh38.p12 | NC_000001.11 | 1 | 587197 | 629078 | 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 | essv55274 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19099 | GRCh38.p12 | NC_000001.11 | 1 | 586173 | 608427 | Remapped | 1 | ||||||||
estd20 | essv56022 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12776 | GRCh38.p12 | NC_000001.11 | 1 | 629160 | 634908 | Remapped | 1 | ||||||||
estd20 | essv56439 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12776 | GRCh38.p12 | NC_000001.11 | 1 | 587662 | 629078 | Remapped | 1 | ||||||||
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 | essv57524 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA11993 | GRCh38.p12 | NC_000001.11 | 1 | 629160 | 635024 | 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 | essv60486 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18523 | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 775465 | Remapped | 1 | ||||||||
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 | essv61475 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12239 | GRCh38.p12 | NC_000001.11 | 1 | 586268 | 639715 | Remapped | 1 | ||||||||
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 | essv63677 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA07045 | GRCh38.p12 | NC_000001.11 | 1 | 629202 | 634786 | Remapped | 1 | ||||||||
estd20 | essv64244 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA07045 | GRCh38.p12 | NC_000001.11 | 1 | 611243 | 612408 | Remapped | 1 | ||||||||
estd20 | essv65388 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19240 | GRCh38.p12 | NC_000001.11 | 1 | 629281 | 634786 | Remapped | 1 | ||||||||
estd20 | essv65410 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA19240 | GRCh38.p12 | NC_000001.11 | 1 | 10499 | 91591 | Remapped | 1.00169 | ||||||||
estd20 | essv66578 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12828 | GRCh38.p12 | NC_000001.11 | 1 | 629160 | 634908 | Remapped | 1 | ||||||||
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 | essv68086 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA18858 | GRCh38.p12 | NC_000001.11 | 1 | 587197 | 651136 | Remapped | 1 | ||||||||
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 | essv69512 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12044 | GRCh38.p12 | NC_000001.11 | 1 | 629202 | 634908 | Remapped | 1 | ||||||||
estd20 | essv70548 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA18916 | GRCh38.p12 | NC_000001.11 | 1 | 629202 | 634171 | 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 | essv76336 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12414 | GRCh38.p12 | NC_000001.11 | 1 | 629160 | 634908 | 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 | essv79193 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | NA12749 | GRCh38.p12 | NC_000001.11 | 1 | 629202 | 634908 | Remapped | 1 | ||||||||
estd20 | essv79246 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12749 | GRCh38.p12 | NC_000001.11 | 1 | 358057 | 403494 | Remapped | 1 | ||||||||
estd20 | essv79491 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA12749 | GRCh38.p12 | NC_000001.11 | 1 | 586732 | 629160 | Remapped | 1 | ||||||||
estd20 | essv81202 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | NA19114 | GRCh38.p12 | NC_000001.11 | 1 | 588202 | 629014 | 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 |