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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd206 | essv7099002 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 1199862 | 1431537 | Remapped | 1 | |||||||
estd206 | essv7099003 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 1227055 | 1759611 | Remapped | 1.00746 | |||||||
estd206 | essv7099004 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 10640391 | 10683306 | Remapped | 1 | |||||||
estd206 | essv7099015 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 40547343 | 40561077 | Remapped | 1 | |||||||
estd206 | essv7099026 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 44964546 | 44989613 | Remapped | 1 | |||||||
estd206 | essv7099037 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 49462817 | 49513070 | Remapped | 1 | |||||||
estd206 | essv7099048 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 102196124 | 102333501 | Remapped | 1 | |||||||
estd206 | essv7099059 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 143545263 | 143653074 | Remapped | 1.00003 | |||||||
estd206 | essv7099081 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 150636418 | 150964853 | Remapped | 1 | |||||||
estd206 | essv7099092 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 152786043 | 152794005 | Remapped | 1 | |||||||
estd206 | essv7099103 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 158523936 | 158527782 | Remapped | 1 | |||||||
estd206 | essv7099114 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 1284756 | 1334343 | Remapped | 1 | |||||||
estd206 | essv7099115 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 191588892 | 191706287 | Remapped | 1 | |||||||
estd206 | essv7099126 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 196854170 | 196927958 | Remapped | 1 | |||||||
estd206 | essv7099137 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 196854170 | 196927958 | Remapped | 1 | |||||||
estd206 | essv7099148 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 196854170 | 196898103 | Remapped | 1 | |||||||
estd206 | essv7099159 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 196868930 | 196927958 | Remapped | 1 | |||||||
estd206 | essv7099170 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 202448435 | 202562238 | Remapped | 1 | |||||||
estd206 | essv7099181 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 222324184 | 222360071 | Remapped | 1 | |||||||
estd206 | essv7099192 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 226187566 | 226301125 | Remapped | 1 | |||||||
estd206 | essv7099203 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 226195221 | 226301125 | Remapped | 1 | |||||||
estd206 | essv7099214 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 228321726 | 228500247 | Remapped | 1 | |||||||
estd206 | essv7099225 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 1294390 | 1421170 | Remapped | 1 | |||||||
estd206 | essv7099226 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 231575743 | 231677388 | Remapped | 1 | |||||||
estd206 | essv7099237 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 238929939 | 238960881 | Remapped | 1 | |||||||
estd206 | essv7099248 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 241706565 | 241723879 | Remapped | 1 | |||||||
estd206 | essv7099259 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 244996265 | 245015886 | Remapped | 1 | |||||||
estd206 | essv7099270 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 248607960 | 248622144 | Remapped | 1 | |||||||
estd206 | essv7099281 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 248607960 | 248622144 | Remapped | 1 | |||||||
estd206 | essv7099292 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 89910 | 200354 | Remapped | 1 | |||||||
estd206 | essv7099303 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 4165788 | 4174353 | Remapped | 1 | |||||||
estd206 | essv7099314 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 4165788 | 4174353 | Remapped | 1 | |||||||
estd206 | essv7099325 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 4165788 | 4174353 | Remapped | 1 | |||||||
estd206 | essv7099336 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 1464436 | 1490320 | Remapped | 1 | |||||||
estd206 | essv7099337 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 4165788 | 4174353 | Remapped | 1 | |||||||
estd206 | essv7099348 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 4165788 | 4174353 | Remapped | 1 | |||||||
estd206 | essv7099359 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 14215597 | 14227926 | Remapped | 1 | |||||||
estd206 | essv7099370 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 17041861 | 17051111 | Remapped | 1 | |||||||
estd206 | essv7099381 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 27939994 | 27945548 | Remapped | 1 | |||||||
estd206 | essv7099392 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 34477990 | 34501497 | Remapped | 1 | |||||||
estd206 | essv7099403 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 34477990 | 34501497 | Remapped | 1 | |||||||
estd206 | essv7099414 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 34477990 | 34501497 | Remapped | 1 | |||||||
estd206 | essv7099425 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 34477990 | 34501497 | Remapped | 1 | |||||||
estd206 | essv7099436 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 34477990 | 34501497 | Remapped | 1 | |||||||
estd206 | essv7099447 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 2430581 | 2447809 | Remapped | 1 | |||||||
estd206 | essv7099448 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 41014352 | 41021328 | Remapped | 1 | |||||||
estd206 | essv7099459 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 51695429 | 51700904 | Remapped | 1 | |||||||
estd206 | essv7099470 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 51695429 | 51700904 | Remapped | 1 | |||||||
estd206 | essv7099481 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 51699505 | 51700904 | Remapped | 1 | |||||||
estd206 | essv7099492 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 51699505 | 51700904 | Remapped | 1 | |||||||
estd206 | essv7099503 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 51699505 | 51700557 | Remapped | 1 | |||||||
estd206 | essv7099514 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 51699505 | 51700284 | Remapped | 1 | |||||||
estd206 | essv7099525 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 51699505 | 51700904 | Remapped | 1 | |||||||
estd206 | essv7099529 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 72583002 | 72616856 | Remapped | 1 | |||||||
estd206 | essv7099530 | copy number gain | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 103150382 | 103204918 | Remapped | 1 | |||||||
estd206 | essv7099531 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 110838098 | 110844917 | Remapped | 1 | |||||||
estd206 | essv7099532 | copy number gain | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 121426988 | 121736756 | Remapped | 1.0002 | |||||||
estd206 | essv7099533 | copy number gain | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 148235111 | 148371305 | Remapped | 0.89867 | |||||||
estd206 | essv7099534 | copy number gain | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 148235111 | 148371305 | Remapped | 0.89867 | |||||||
estd206 | essv7099535 | copy number gain | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 148235111 | 148354530 | Remapped | 1.00121 | |||||||
estd206 | essv7099536 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 51699505 | 51700557 | Remapped | 1 | |||||||
estd206 | essv7099537 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 165816266 | 165871174 | Remapped | 1 | |||||||
estd206 | essv7099538 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 196801995 | 196913214 | Remapped | 1 | |||||||
estd206 | essv7099539 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 196810758 | 196913214 | Remapped | 1 | |||||||
estd206 | essv7099540 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 216281141 | 216302200 | Remapped | 1 | |||||||
estd206 | essv7099541 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 216456074 | 216483917 | Remapped | 1 | |||||||
estd206 | essv7099542 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 227108015 | 227234533 | Remapped | 1 | |||||||
estd206 | essv7099543 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 238922883 | 238960881 | Remapped | 1 | |||||||
estd206 | essv7099544 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 248607960 | 248622144 | Remapped | 1 | |||||||
estd206 | essv7099545 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000001.11 | 1 | 248607960 | 248622144 | Remapped | 1 | |||||||
estd206 | essv7099546 | copy number gain | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 872764 | 1083634 | Remapped | 1 | |||||||
estd206 | essv7099547 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 52533315 | 52556534 | Remapped | 1 | |||||||
estd206 | essv7099548 | copy number gain | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 1576478 | 1774786 | Remapped | 1 | |||||||
estd206 | essv7099549 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 4165788 | 4174353 | Remapped | 1 | |||||||
estd206 | essv7099550 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 4165788 | 4174353 | Remapped | 1 | |||||||
estd206 | essv7099551 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 4165788 | 4174353 | Remapped | 1 | |||||||
estd206 | essv7099552 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 4165788 | 4174353 | Remapped | 1 | |||||||
estd206 | essv7099553 | copy number gain | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 9271603 | 9290649 | Remapped | 1 | |||||||
estd206 | essv7099554 | copy number gain | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 17990546 | 18011575 | Remapped | 1 | |||||||
estd206 | essv7099555 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 34477990 | 34501497 | Remapped | 1 | |||||||
estd206 | essv7099556 | copy number gain | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 34477990 | 34501497 | Remapped | 1 | |||||||
estd206 | essv7099557 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 34477990 | 34492732 | Remapped | 1 | |||||||
estd206 | essv7099558 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 2430581 | 2512975 | Remapped | 1 | |||||||
estd206 | essv7099559 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 52533315 | 52556534 | Remapped | 1 | |||||||
estd206 | essv7099560 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 51699505 | 51700904 | Remapped | 1 | |||||||
estd206 | essv7099561 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 51699505 | 51700904 | Remapped | 1 | |||||||
estd206 | essv7099562 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 51699505 | 51699766 | Remapped | 1 | |||||||
estd206 | essv7099563 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 52533315 | 52556534 | Remapped | 1 | |||||||
estd206 | essv7099564 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 52533315 | 52556534 | Remapped | 1 | |||||||
estd206 | essv7099565 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 52533315 | 52556534 | Remapped | 1 | |||||||
estd206 | essv7099566 | copy number loss | 2 | SNP array | Probe signal intensity | No | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 52533315 | 52556534 | Remapped | 1 | |||||||
estd206 | essv7099567 | copy number loss | 2 | SNP array | Probe signal intensity | Yes | Healthy individuals | GRCh38.p12 | NC_000002.12 | 2 | 89086123 | 91473567 | Remapped | 1.28155 | |||||||
estd206 | essv7099570 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 52533315 | 52556534 | Remapped | 1 | |||||||
estd206 | essv7099581 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 52533315 | 52556534 | Remapped | 1 | |||||||
estd206 | essv7099592 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 57175505 | 57238668 | Remapped | 1 | |||||||
estd206 | essv7099603 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 57175505 | 57219074 | Remapped | 1 | |||||||
estd206 | essv7099614 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000002.12 | 2 | 65562907 | 65567170 | Remapped | 1 | |||||||
estd206 | essv7099669 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 2783827 | 3282653 | Remapped | 0.99996 | |||||||
estd206 | essv7099780 | copy number loss | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 6241222 | 6470129 | Remapped | 1 | |||||||
estd206 | essv7099891 | copy number gain | 1 | SNP array | Probe signal intensity | No | Recurrent miscarriage | GRCh38.p12 | NC_000001.11 | 1 | 9277058 | 9340809 | Remapped | 1 |