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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd59 | esv3325753 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 48089 | 50049 | 50389 | 50687 | 51067 | 52987 | Remapped | 1 | |||||||
estd59 | esv3329998 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 102889 | 103889 | 104889 | 104787 | 105787 | 106787 | Remapped | 1 | |||||||
estd59 | esv3332721 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 444620 | 445770 | 446720 | 446618 | 447398 | 448518 | Remapped | 1 | |||||||
estd59 | esv3333057 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 62789 | 63789 | 64789 | 65287 | 66287 | 67287 | Remapped | 1 | |||||||
estd59 | esv3334942 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 361250 | 362250 | 363250 | 367348 | 368348 | 369348 | Remapped | 1 | |||||||
estd59 | esv3335040 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 108889 | 109889 | 110889 | 110187 | 111187 | 112187 | Remapped | 1 | |||||||
estd59 | esv3335281 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 51089 | 52089 | 53089 | 53387 | 54387 | 55387 | Remapped | 1 | |||||||
estd59 | esv3336840 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 102089 | 103089 | 104089 | 104787 | 105787 | 106787 | Remapped | 1 | |||||||
estd59 | esv3337205 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 260338 | 261338 | 262338 | 264936 | 265936 | 266936 | Remapped | 1 | |||||||
estd59 | esv3338513 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 366810 | 368770 | 369110 | 369608 | 369988 | 371908 | Remapped | 1 | |||||||
estd59 | esv3339403 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 88789 | 90749 | 91089 | 91287 | 91667 | 93587 | Remapped | 1 | |||||||
estd59 | esv3341557 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 66189 | 67189 | 68189 | 67887 | 68887 | 69887 | Remapped | 1 | |||||||
estd59 | esv3343481 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 10189 | 11189 | 12189 | 35787 | 36787 | 37787 | Remapped | 1 | |||||||
estd59 | esv3345207 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 476200 | 476910 | 477589 | 476909 | 477588 | 478598 | Remapped | 1 | |||||||
estd59 | esv3347825 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 279538 | 280538 | 281538 | 280836 | 281836 | 282836 | Remapped | 1 | |||||||
estd59 | esv3347881 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 385850 | 386850 | 387850 | 387348 | 388348 | 389348 | Remapped | 1 | |||||||
estd59 | esv3349278 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 105789 | 106789 | 107789 | 108187 | 109187 | 110187 | Remapped | 1 | |||||||
estd59 | esv3350737 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 24260 | 24310 | 24360 | 35339340 | 35339390 | 35339440 | Remapped | 0.99302 | |||||||
estd59 | esv3351302 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 43076 | 43171 | 43246 | 43373 | 43475 | 43563 | Remapped | 1 | |||||||
estd59 | esv3352725 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 274238 | 275238 | 276238 | 276436 | 277436 | 278436 | Remapped | 1 | |||||||
estd59 | esv3353898 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 62489 | 63489 | 64489 | 65087 | 66087 | 67087 | Remapped | 1 | |||||||
estd59 | esv3354146 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 450720 | 451870 | 452699 | 451918 | 452698 | 453818 | Remapped | 1 | |||||||
estd59 | esv3355890 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 77289 | 79249 | 79589 | 80787 | 81167 | 83087 | Remapped | 1 | |||||||
estd59 | esv3357639 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 135289 | 136289 | 137289 | 136487 | 137487 | 138487 | Remapped | 1 | |||||||
estd59 | esv3359178 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 404450 | 405450 | 406450 | 408348 | 409348 | 410348 | Remapped | 1 | |||||||
estd59 | esv3364878 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 10189 | 11189 | 12189 | 35287 | 36287 | 37287 | Remapped | 1 | |||||||
estd59 | esv3366041 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 66189 | 67189 | 68189 | 67887 | 68887 | 69887 | Remapped | 1 | |||||||
estd59 | esv3366541 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 90039 | 90749 | 91439 | 90937 | 91627 | 92637 | Remapped | 1 | |||||||
estd59 | esv3368735 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 43989 | 44989 | 45989 | 50487 | 51487 | 52487 | Remapped | 1 | |||||||
estd59 | esv3369077 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 44789 | 45789 | 46789 | 45987 | 46987 | 47987 | Remapped | 1 | |||||||
estd59 | esv3370781 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 430710 | 432670 | 433010 | 434608 | 434988 | 436908 | Remapped | 1 | |||||||
estd59 | esv3374601 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 65489 | 66199 | 66653 | 66198 | 66652 | 67662 | Remapped | 1 | |||||||
estd59 | esv3379005 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 90589 | 91589 | 92589 | 96087 | 97087 | 98087 | Remapped | 1 | |||||||
estd59 | esv3381085 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 281338 | 282338 | 283338 | 284636 | 285636 | 286636 | Remapped | 1 | |||||||
estd59 | esv3381255 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 347050 | 348050 | 349050 | 356048 | 357048 | 358048 | Remapped | 1 | |||||||
estd59 | esv3390070 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 274938 | 275938 | 276938 | 276536 | 277536 | 278536 | Remapped | 1 | |||||||
estd59 | esv3391927 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 365950 | 366950 | 367950 | 367448 | 368448 | 369448 | Remapped | 1 | |||||||
estd59 | esv3394841 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 433010 | 434000 | 434209 | 434008 | 434208 | 435508 | Remapped | 1 | |||||||
estd59 | esv3397836 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 81389 | 83349 | 83689 | 83987 | 84367 | 86287 | Remapped | 1 | |||||||
estd59 | esv3399592 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 381810 | 383770 | 384110 | 384008 | 384388 | 386308 | Remapped | 1 | |||||||
estd59 | esv3399838 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 380310 | 382270 | 382589 | 382269 | 382588 | 384508 | Remapped | 1 | |||||||
estd59 | esv3400895 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 78889 | 79599 | 80289 | 88137 | 88827 | 89837 | Remapped | 1 | |||||||
estd59 | esv3404563 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 439610 | 441570 | 441910 | 443808 | 444188 | 446108 | Remapped | 1 | |||||||
estd59 | esv3405973 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 281438 | 282438 | 283438 | 283336 | 284336 | 285336 | Remapped | 1 | |||||||
estd59 | esv3410685 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 358650 | 359650 | 360650 | 362048 | 363048 | 364048 | Remapped | 1 | |||||||
estd59 | esv3411655 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 36489 | 37489 | 38489 | 42587 | 43587 | 44587 | Remapped | 1 | |||||||
estd59 | esv3411984 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 90889 | 91889 | 92889 | 97387 | 98387 | 99387 | Remapped | 1 | |||||||
estd59 | esv3412177 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 448020 | 449170 | 450120 | 449818 | 450598 | 451718 | Remapped | 1 | |||||||
estd59 | esv3413313 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 260138 | 261138 | 262138 | 268036 | 269036 | 270036 | Remapped | 1 | |||||||
estd59 | esv3413391 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 278738 | 279738 | 280738 | 283436 | 284436 | 285436 | Remapped | 1 | |||||||
estd59 | esv3416681 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 388850 | 389850 | 390850 | 393248 | 394248 | 395248 | Remapped | 1 | |||||||
estd59 | esv3416780 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 278738 | 279738 | 280738 | 280836 | 281836 | 282836 | Remapped | 1 | |||||||
estd59 | esv3419296 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 356550 | 357550 | 358549 | 357549 | 358548 | 359548 | Remapped | 1 | |||||||
estd59 | esv3421105 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 61089 | 63049 | 63389 | 63687 | 64067 | 65987 | Remapped | 1 | |||||||
estd59 | esv3424077 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | |||||||
estd59 | esv3424705 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 270538 | 271538 | 272538 | 272836 | 273836 | 274836 | Remapped | 1 | |||||||
estd59 | esv3426596 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 364750 | 365750 | 366750 | 367448 | 368448 | 369448 | Remapped | 1 | |||||||
estd59 | esv3427619 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 105789 | 106789 | 107789 | 108187 | 109187 | 110187 | Remapped | 1 | |||||||
estd59 | esv3428396 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 44889 | 45889 | 46889 | 52987 | 53987 | 54987 | Remapped | 1 | |||||||
estd59 | esv3430433 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 37889 | 38889 | 39889 | 39687 | 40687 | 41687 | Remapped | 1 | |||||||
estd59 | esv3431230 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 75639 | 76789 | 77739 | 79337 | 80117 | 81237 | Remapped | 1 | |||||||
estd59 | esv3431809 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 98689 | 99689 | 100689 | 99887 | 100887 | 101887 | Remapped | 1 | |||||||
estd59 | esv3431827 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 260238 | 261238 | 262238 | 268036 | 269036 | 270036 | Remapped | 1 | |||||||
estd59 | esv3432331 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 259138 | 260138 | 261138 | 267536 | 268536 | 269536 | Remapped | 1 | |||||||
estd59 | esv3433926 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 27989 | 28989 | 29989 | 34387 | 35387 | 36387 | Remapped | 1 | |||||||
estd59 | esv3436859 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 92889 | 93889 | 94889 | 95487 | 96487 | 97487 | Remapped | 1 | |||||||
estd59 | esv3438382 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 431650 | 432650 | 433549 | 432649 | 433548 | 434548 | Remapped | 1 | |||||||
estd59 | esv3439865 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 46689 | 47689 | 48689 | 50487 | 51487 | 52487 | Remapped | 1 | |||||||
estd59 | esv3440776 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 365210 | 367170 | 367510 | 367508 | 367888 | 369808 | Remapped | 1 | |||||||
estd59 | esv3441117 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 65789 | 66789 | 67789 | 67887 | 68887 | 69887 | Remapped | 1 | |||||||
estd59 | esv3441565 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 105789 | 106789 | 107789 | 110287 | 111287 | 112287 | Remapped | 1 | |||||||
estd59 | esv3444251 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 390650 | 391650 | 392650 | 393248 | 394248 | 395248 | Remapped | 1 | |||||||
estd59 | esv3445983 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 347050 | 348050 | 349050 | 357648 | 358648 | 359648 | Remapped | 1 | |||||||
estd59 | esv3452817 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 38989 | 40949 | 41289 | 41987 | 42367 | 44287 | Remapped | 1 | |||||||
estd59 | esv3452818 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 38989 | 40949 | 41289 | 41987 | 42367 | 44287 | Remapped | 1 | |||||||
estd59 | esv3452820 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | |||||||
estd59 | esv3452821 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 56489 | 58449 | 58789 | 59087 | 59467 | 61387 | Remapped | 1 | |||||||
estd59 | esv3452822 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 56489 | 56589 | 56689 | 59087 | 59087 | 59087 | Remapped | 1 | |||||||
estd59 | esv3452823 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 59589 | 61549 | 61889 | 61987 | 62367 | 64287 | Remapped | 1 | |||||||
estd59 | esv3452824 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 59589 | 61549 | 61889 | 61987 | 62367 | 64287 | Remapped | 1 | |||||||
estd59 | esv3452825 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 63589 | 65549 | 65889 | 65587 | 65967 | 67887 | Remapped | 1 | |||||||
estd59 | esv3452826 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 63589 | 65549 | 65889 | 65587 | 65967 | 67887 | Remapped | 1 | |||||||
estd59 | esv3452827 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 67189 | 69149 | 69489 | 69887 | 70267 | 72187 | Remapped | 1 | |||||||
estd59 | esv3452828 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 67189 | 69149 | 69489 | 69887 | 70267 | 72187 | Remapped | 1 | |||||||
estd59 | esv3452829 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 69989 | 71949 | 72289 | 73187 | 73567 | 75487 | Remapped | 1 | |||||||
estd59 | esv3452831 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 69989 | 71949 | 72289 | 73187 | 73567 | 75487 | Remapped | 1 | |||||||
estd59 | esv3452832 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 86789 | 88749 | 89089 | 89887 | 90267 | 92187 | Remapped | 1 | |||||||
estd59 | esv3452833 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 84789 | 86749 | 87089 | 87887 | 88267 | 90187 | Remapped | 1 | |||||||
estd59 | esv3452834 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 86789 | 86939 | 87089 | 89887 | 90037 | 90187 | Remapped | 1 | |||||||
estd59 | esv3452835 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 360210 | 362170 | 362510 | 362708 | 363088 | 365008 | Remapped | 1 | |||||||
estd59 | esv3452836 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 360210 | 362170 | 362510 | 362708 | 363088 | 365008 | Remapped | 1 | |||||||
estd59 | esv3497231 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 267196 | 267306 | 269296 | 584554 | 586134 | 586254 | Remapped | 1.12083 | |||||||
estd59 | esv3497232 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 267196 | 267306 | 269296 | 584554 | 586134 | 586254 | Remapped | 1.12083 | |||||||
estd59 | esv3502309 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 84389 | 85539 | 86489 | 88387 | 89167 | 90287 | Remapped | 1 | |||||||
estd59 | esv3502310 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 84839 | 85549 | 86239 | 89637 | 90327 | 91337 | Remapped | 1 | |||||||
estd59 | esv3502311 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 84839 | 85539 | 86239 | 89637 | 89962 | 90287 | Remapped | 1 | |||||||
estd59 | esv3527668 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 81689 | 82839 | 83789 | 90887 | 91667 | 92787 | Remapped | 1 | |||||||
estd59 | esv3527669 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 81689 | 82839 | 83789 | 90887 | 91667 | 92787 | Remapped | 1 | |||||||
estd59 | esv3529805 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 434220 | 435370 | 436320 | 441918 | 442698 | 443818 | Remapped | 1 | |||||||
estd59 | esv3529807 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 434220 | 435370 | 436320 | 441918 | 442698 | 443818 | Remapped | 1 |