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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| estd213 | esv3584475 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 12134394 | 12217607 | Remapped | 1 | |||||||||||
| estd213 | esv3584476 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 12797714 | 12832455 | Remapped | 1.00856 | |||||||||||
| estd213 | esv3584477 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143546535 | 143673272 | Remapped | 1.00021 | |||||||||||
| estd213 | esv3584488 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143550213 | 143603040 | Remapped | 1.00021 | |||||||||||
| estd213 | esv3584499 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 152583230 | 152613762 | Remapped | 1 | |||||||||||
| estd213 | esv3584502 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 50327055 | 50622310 | Remapped | 1 | |||||||||||
| estd213 | esv3584503 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 57017588 | 57019325 | Remapped | 1 | |||||||||||
| estd213 | esv3584504 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 68697108 | 68698262 | Remapped | 1 | |||||||||||
| estd213 | esv3584505 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 159889156 | 159930826 | Remapped | 1 | |||||||||||
| estd213 | esv3584506 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 162795671 | 162906109 | Remapped | 1 | |||||||||||
| estd213 | esv3584507 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 166283476 | 166426063 | Remapped | 1 | |||||||||||
| estd213 | esv3584508 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 166283816 | 166426063 | Remapped | 1 | |||||||||||
| estd213 | esv3584509 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 166278373 | 166426063 | Remapped | 1 | |||||||||||
| estd213 | esv3584510 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 152580278 | 152613802 | Remapped | 1 | |||||||||||
| estd213 | esv3584511 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 166283476 | 166427072 | Remapped | 1 | |||||||||||
| estd213 | esv3584521 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 152578849 | 152618089 | Remapped | 1 | |||||||||||
| estd213 | esv3584532 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 161541620 | 161669769 | Remapped | 1 | |||||||||||
| estd213 | esv3584586 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 12781785 | 12823233 | Remapped | 1.0068 | |||||||||||
| estd213 | esv3584587 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 16868660 | 16935752 | Remapped | 1 | |||||||||||
| estd213 | esv3584589 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 12781785 | 13152461 | Remapped | 0.76409 | |||||||||||
| estd213 | esv3584590 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 15823420 | 15828515 | Remapped | 1 | |||||||||||
| estd213 | esv3584591 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 25266637 | 25320455 | Remapped | 1 | |||||||||||
| estd213 | esv3584592 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 105458984 | 105479753 | Remapped | 1 | |||||||||||
| estd213 | esv3584593 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 105476583 | 105479753 | Remapped | 1 | |||||||||||
| estd213 | esv3584594 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 109690352 | 109692006 | Remapped | 1 | |||||||||||
| estd213 | esv3584595 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 112153052 | 112154768 | Remapped | 1 | |||||||||||
| estd213 | esv3584596 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 147489036 | 147498757 | Remapped | 0.99387 | |||||||||||
| estd213 | esv3584597 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143509840 | 143751078 | Remapped | 0.81623 | |||||||||||
| estd213 | esv3584598 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143509840 | 143764768 | Remapped | 0.82437 | |||||||||||
| estd213 | esv3584600 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143530180 | 143735192 | Remapped | 0.99986 | |||||||||||
| estd213 | esv3584601 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143541857 | 143748421 | Remapped | 1.00008 | |||||||||||
| estd213 | esv3584602 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143541857 | 143751078 | Remapped | 1.00008 | |||||||||||
| estd213 | esv3584603 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143541857 | 143942271 | Remapped | 1.00024 | |||||||||||
| estd213 | esv3584604 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143621884 | 143852961 | Remapped | 1.00041 | |||||||||||
| estd213 | esv3584605 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143624431 | 143708149 | Remapped | 1.00014 | |||||||||||
| estd213 | esv3584606 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143710401 | 143764768 | Remapped | 1 | |||||||||||
| estd213 | esv3584607 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143734438 | 143764768 | Remapped | 1 | |||||||||||
| estd213 | esv3584608 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143762042 | 143942271 | Remapped | 1.00043 | |||||||||||
| estd213 | esv3584609 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 152583230 | 152614118 | Remapped | 1 | |||||||||||
| estd213 | esv3584611 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 152580278 | 152614118 | Remapped | 1 | |||||||||||
| estd213 | esv3584612 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 152789447 | 152796224 | Remapped | 1 | |||||||||||
| estd213 | esv3584613 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 196740630 | 196832942 | Remapped | 1 | |||||||||||
| estd213 | esv3584614 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 239426923 | 239437863 | Remapped | 1 | |||||||||||
| estd213 | esv3584615 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 248585893 | 248633912 | Remapped | 1 | |||||||||||
| estd213 | esv3584616 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 248568732 | 248633912 | Remapped | 1 | |||||||||||
| estd213 | esv3584698 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72345465 | Remapped | 1 | |||||||||||
| estd213 | esv3584745 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 34474248 | 34515572 | Remapped | 1 | |||||||||||
| estd213 | esv3584746 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 34498136 | 34502800 | Remapped | 1 | |||||||||||
| estd213 | esv3584747 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 35752724 | 35762881 | Remapped | 1 | |||||||||||
| estd213 | esv3584748 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 36109476 | 36112411 | Remapped | 1 | |||||||||||
| estd213 | esv3584749 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 40700235 | 40722466 | Remapped | 1 | |||||||||||
| estd213 | esv3584750 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 40698951 | 40722466 | Remapped | 1 | |||||||||||
| estd213 | esv3584751 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 40689713 | 40724933 | Remapped | 1 | |||||||||||
| estd213 | esv3584752 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 41011303 | 41018747 | Remapped | 1 | |||||||||||
| estd213 | esv3584753 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 41636505 | 41699764 | Remapped | 1 | |||||||||||
| estd213 | esv3584755 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 41635644 | 41700437 | Remapped | 1 | |||||||||||
| estd213 | esv3584756 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 41636505 | 41704570 | Remapped | 1 | |||||||||||
| estd213 | esv3584757 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 52524432 | 52554404 | Remapped | 1 | |||||||||||
| estd213 | esv3584758 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 52512042 | 52565690 | Remapped | 1 | |||||||||||
| estd213 | esv3584759 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 52524432 | 52563002 | Remapped | 1 | |||||||||||
| estd213 | esv3584760 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 72022861 | 72044359 | Remapped | 1 | |||||||||||
| estd213 | esv3584761 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 78317894 | 79203502 | Remapped | 1 | |||||||||||
| estd213 | esv3584762 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 89319239 | 90235899 | Remapped | 1.79049 | |||||||||||
| estd213 | esv3584763 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 106264257 | 106268901 | Remapped | 1 | |||||||||||
| estd213 | esv3584764 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 109032701 | 109068943 | Remapped | 1 | |||||||||||
| estd213 | esv3584766 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 122718842 | 122724665 | Remapped | 1 | |||||||||||
| estd213 | esv3584767 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 128880904 | 128882723 | Remapped | 1 | |||||||||||
| estd213 | esv3584768 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 146103672 | 146109366 | Remapped | 1 | |||||||||||
| estd213 | esv3584769 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 146106836 | 146109366 | Remapped | 1 | |||||||||||
| estd213 | esv3584770 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 146106875 | 146109366 | Remapped | 1 | |||||||||||
| estd213 | esv3584771 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 179548635 | 179557410 | Remapped | 1 | |||||||||||
| estd213 | esv3584772 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 179553763 | 179557410 | Remapped | 1 | |||||||||||
| estd213 | esv3584782 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 188339 | 193194 | Remapped | 1 | |||||||||||
| estd213 | esv3584783 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 8079338 | 8103287 | Remapped | 1 | |||||||||||
| estd213 | esv3584784 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 37940613 | 37945437 | Remapped | 1 | |||||||||||
| estd213 | esv3584785 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 52994359 | 53007503 | Remapped | 1 | |||||||||||
| estd213 | esv3584786 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 65203560 | 65224777 | Remapped | 1 | |||||||||||
| estd213 | esv3584788 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 65200174 | 65224640 | Remapped | 1 | |||||||||||
| estd213 | esv3584789 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 84650642 | 84652966 | Remapped | 1 | |||||||||||
| estd213 | esv3584790 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 130044016 | 130087393 | Remapped | 1 | |||||||||||
| estd213 | esv3584791 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 130044855 | 130080754 | Remapped | 1 | |||||||||||
| estd213 | esv3584792 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 130057015 | 130087393 | Remapped | 1 | |||||||||||
| estd213 | esv3584793 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 162498841 | 162509171 | Remapped | 1 | |||||||||||
| estd213 | esv3584794 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 162794869 | 162906093 | Remapped | 1 | |||||||||||
| estd213 | esv3584795 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 162794869 | 162906109 | Remapped | 1 | |||||||||||
| estd213 | esv3584796 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 162794869 | 162908207 | Remapped | 1 | |||||||||||
| estd213 | esv3584809 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72379161 | Remapped | 1 | |||||||||||
| estd213 | esv3584917 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 109681762 | 109700331 | Remapped | 1 | |||||||||||
| estd213 | esv3584928 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 109690352 | 109700331 | Remapped | 1 | |||||||||||
| estd213 | esv3584939 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 109681805 | 109700331 | Remapped | 1 | |||||||||||
| estd213 | esv3584950 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 109683865 | 109700331 | Remapped | 1 | |||||||||||
| estd213 | esv3584955 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 52527342 | 52554404 | Remapped | 1 | |||||||||||
| estd213 | esv3584956 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 73969982 | 74090008 | Remapped | 1 | |||||||||||
| estd213 | esv3584957 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 75377244 | 75405998 | Remapped | 1 | |||||||||||
| estd213 | esv3584958 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 75389270 | 75405998 | Remapped | 1 | |||||||||||
| estd213 | esv3584959 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 77746919 | 77769540 | Remapped | 1 | |||||||||||
| estd213 | esv3584960 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 89960252 | 90235899 | Remapped | 0.99979 | |||||||||||
| estd213 | esv3584961 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143545399 | 143616084 | Remapped | 1.0001 | |||||||||||
| estd213 | esv3584962 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 170178516 | 170217855 | Remapped | 1 | |||||||||||
| estd213 | esv3584963 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 231583884 | 231673216 | Remapped | 1 |