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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd199 | essv5403827 | deletion | Merging | Merging | Yes | NA18999 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5448104 | deletion | Merging | Merging | Yes | NA18564 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5451591 | deletion | Merging | Merging | Yes | NA18620 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5463605 | deletion | Merging | Merging | Yes | HG01357 | GRCh38.p12 | NC_000001.11 | 1 | 841389 | 856501 | Remapped | 1 | ||||||||
estd199 | essv5469214 | deletion | Merging | Merging | Yes | NA19070 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5500219 | deletion | Merging | Merging | Yes | HG00512 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5518894 | deletion | Merging | Merging | Yes | NA19655 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5519573 | deletion | Merging | Merging | Yes | HG00557 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5520084 | deletion | Merging | Merging | Yes | NA18557 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5523850 | deletion | Merging | Merging | Yes | NA18573 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5539265 | deletion | Merging | Merging | Yes | HG00614 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5557684 | deletion | Merging | Merging | Yes | NA18990 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5583588 | deletion | Merging | Merging | Yes | NA19066 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5590254 | deletion | Merging | Merging | Yes | HG00584 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5616233 | deletion | Merging | Merging | Yes | HG00608 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5632149 | deletion | Merging | Merging | Yes | NA18595 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5654029 | deletion | Merging | Merging | Yes | NA18985 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5707758 | deletion | Merging | Merging | Yes | NA19083 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5733502 | deletion | Merging | Merging | Yes | HG00543 | GRCh38.p12 | NC_000001.11 | 1 | 938037 | 938669 | Remapped | 1 | ||||||||
estd199 | essv5748399 | deletion | Merging | Merging | Yes | NA19074 | GRCh38.p12 | NC_000001.11 | 1 | 938037 | 938669 | Remapped | 1 | ||||||||
estd199 | essv5758742 | deletion | Merging | Merging | Yes | HG00448 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5781826 | deletion | Merging | Merging | Yes | NA19004 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5803927 | deletion | Merging | Merging | Yes | HG00513 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5805894 | deletion | Merging | Merging | No | NA19000 | GRCh38.p12 | NC_000001.11 | 1 | 803238 | 803275 | 806676 | 806726 | Remapped | 1 | ||||||
estd199 | essv5809976 | deletion | Merging | Merging | Yes | NA18984 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5813808 | deletion | Merging | Merging | Yes | HG00651 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5826571 | deletion | Merging | Merging | Yes | HG01389 | GRCh38.p12 | NC_000001.11 | 1 | 841389 | 856501 | Remapped | 1 | ||||||||
estd199 | essv5900400 | deletion | Merging | Merging | Yes | HG00690 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5901179 | deletion | Merging | Merging | Yes | NA19239 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5935659 | deletion | Merging | Merging | Yes | NA18592 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5952876 | deletion | Merging | Merging | Yes | HG01066 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv5957539 | deletion | Merging | Merging | Yes | NA19012 | GRCh38.p12 | NC_000001.11 | 1 | 938037 | 938669 | Remapped | 1 | ||||||||
estd199 | essv6020202 | deletion | Merging | Merging | Yes | HG01491 | GRCh38.p12 | NC_000001.11 | 1 | 841389 | 856501 | Remapped | 1 | ||||||||
estd199 | essv6021317 | deletion | Merging | Merging | Yes | HG01204 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6027023 | deletion | Merging | Merging | Yes | NA18964 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6030252 | deletion | Merging | Merging | Yes | NA19074 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6041253 | deletion | Merging | Merging | Yes | NA19473 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6047722 | deletion | Merging | Merging | Yes | HG01494 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6060841 | deletion | Merging | Merging | Yes | HG01359 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6064913 | deletion | Merging | Merging | Yes | NA19080 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6067864 | deletion | Merging | Merging | Yes | NA19747 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6094713 | deletion | Merging | Merging | Yes | HG01375 | GRCh38.p12 | NC_000001.11 | 1 | 841389 | 856501 | Remapped | 1 | ||||||||
estd199 | essv6117771 | deletion | Merging | Merging | Yes | NA18544 | GRCh38.p12 | NC_000001.11 | 1 | 938037 | 938669 | Remapped | 1 | ||||||||
estd199 | essv6137789 | deletion | Merging | Merging | Yes | HG00553 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6143600 | deletion | Merging | Merging | Yes | HG01350 | GRCh38.p12 | NC_000001.11 | 1 | 841389 | 856501 | Remapped | 1 | ||||||||
estd199 | essv6192957 | deletion | Merging | Merging | Yes | NA19213 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6257481 | deletion | Merging | Merging | Yes | HG01359 | GRCh38.p12 | NC_000001.11 | 1 | 841389 | 856501 | Remapped | 1 | ||||||||
estd199 | essv6276121 | deletion | Merging | Merging | Yes | HG00583 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6287654 | deletion | Merging | Merging | Yes | NA19461 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6295988 | deletion | Merging | Merging | Yes | NA19657 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6309202 | deletion | Merging | Merging | Yes | NA18951 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6345187 | deletion | Merging | Merging | Yes | HG00620 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6345413 | deletion | Merging | Merging | Yes | HG01374 | GRCh38.p12 | NC_000001.11 | 1 | 841389 | 856501 | Remapped | 1 | ||||||||
estd199 | essv6355316 | deletion | Merging | Merging | Yes | NA18553 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6370075 | deletion | Merging | Merging | Yes | NA19072 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6376621 | deletion | Merging | Merging | Yes | NA18532 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6379774 | deletion | Merging | Merging | Yes | NA18547 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6387100 | deletion | Merging | Merging | Yes | NA18947 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6389326 | deletion | Merging | Merging | Yes | NA18943 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6400366 | deletion | Merging | Merging | Yes | NA19077 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6402564 | deletion | Merging | Merging | Yes | NA18539 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6418188 | deletion | Merging | Merging | Yes | HG00663 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6418259 | deletion | Merging | Merging | Yes | NA18942 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6423047 | deletion | Merging | Merging | Yes | NA18635 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6430407 | deletion | Merging | Merging | Yes | NA18949 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6430927 | deletion | Merging | Merging | Yes | NA18573 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6436893 | deletion | Merging | Merging | Yes | NA18574 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6442790 | deletion | Merging | Merging | Yes | NA18622 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6443495 | deletion | Merging | Merging | Yes | NA18620 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6449523 | deletion | Merging | Merging | Yes | NA19084 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6464009 | deletion | Merging | Merging | Yes | NA18608 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6467493 | deletion | Merging | Merging | Yes | NA18967 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6469348 | deletion | Merging | Merging | Yes | NA18552 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6480133 | deletion | Merging | Merging | Yes | NA18563 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6480331 | deletion | Merging | Merging | Yes | NA18984 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6482771 | deletion | Merging | Merging | Yes | HG00463 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6483725 | deletion | Merging | Merging | Yes | NA19059 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6502636 | deletion | Merging | Merging | Yes | NA18612 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6505246 | deletion | Merging | Merging | Yes | NA18577 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6509658 | deletion | Merging | Merging | Yes | NA18613 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6512898 | deletion | Merging | Merging | Yes | NA18565 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6521104 | deletion | Merging | Merging | Yes | NA19082 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6523376 | deletion | Merging | Merging | Yes | NA18965 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6526343 | deletion | Merging | Merging | Yes | NA19004 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6535946 | deletion | Merging | Merging | Yes | NA19074 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6536645 | deletion | Merging | Merging | Yes | NA18630 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6542198 | deletion | Merging | Merging | Yes | NA18873 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6553074 | deletion | Merging | Merging | Yes | NA18602 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6555045 | deletion | Merging | Merging | Yes | NA19087 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6555599 | deletion | Merging | Merging | Yes | NA18634 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6560863 | deletion | Merging | Merging | Yes | NA19007 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6563096 | deletion | Merging | Merging | Yes | NA18609 | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | ||||||||
estd199 | essv6585690 | deletion | Merging | Merging | Yes | NA18560 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6587307 | deletion | Merging | Merging | Yes | NA18627 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | essv6598157 | deletion | Merging | Merging | Yes | NA19012 | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 | ||||||
estd199 | esv2656593 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 803238 | 803275 | 806676 | 806726 | Remapped | 1 | |||||||||
estd199 | esv2661847 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 831213 | 833732 | Remapped | 1 | |||||||||||
estd199 | esv2663451 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 938037 | 938669 | Remapped | 1 | |||||||||||
estd199 | esv2663916 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 841389 | 856501 | Remapped | 1 | |||||||||||
estd199 | esv2670613 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 976265 | 976686 | 979442 | 979812 | Remapped | 1 |