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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| estd221 | esv3692756 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 8707252 | 8714392 | Remapped | 1 | |||||||||||
| estd221 | esv3692757 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317163 | Remapped | 1 | |||||||||||
| estd221 | esv3692758 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 75622707 | 75660520 | Remapped | 1 | |||||||||||
| estd221 | esv3692769 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 77308728 | 77315882 | Remapped | 1 | |||||||||||
| estd221 | esv3692780 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 94666373 | 94688723 | Remapped | 1 | |||||||||||
| estd221 | esv3692791 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 97572535 | 97576164 | Remapped | 1 | |||||||||||
| estd221 | esv3692802 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 101937189 | 101944959 | Remapped | 1 | |||||||||||
| estd221 | esv3692813 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 103563013 | 103625156 | Remapped | 1 | |||||||||||
| estd221 | esv3692824 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 105622242 | 105672407 | Remapped | 1 | |||||||||||
| estd221 | esv3692835 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 107770636 | 107779913 | Remapped | 1 | |||||||||||
| estd221 | esv3692846 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 110832205 | 110845101 | Remapped | 1 | |||||||||||
| estd221 | esv3692857 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 112712767 | 113894764 | Remapped | 1 | |||||||||||
| estd221 | esv3692868 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 12794693 | 12862756 | Remapped | 1.00434 | |||||||||||
| estd221 | esv3692869 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 114141797 | 114716978 | Remapped | 1 | |||||||||||
| estd221 | esv3692880 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 119564860 | 119597039 | Remapped | 1 | |||||||||||
| estd221 | esv3692891 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 143544453 | 143716839 | Remapped | 1.00006 | |||||||||||
| estd221 | esv3692902 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 152696891 | 152760091 | Remapped | 1 | |||||||||||
| estd221 | esv3692913 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 155216160 | 155234219 | Remapped | 1 | |||||||||||
| estd221 | esv3692924 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 158547046 | 158553881 | Remapped | 1 | |||||||||||
| estd221 | esv3692935 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 161605657 | 161654964 | Remapped | 1 | |||||||||||
| estd221 | esv3692946 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 170403362 | 170411339 | Remapped | 1 | |||||||||||
| estd221 | esv3692957 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 173991609 | 173998383 | Remapped | 1 | |||||||||||
| estd221 | esv3692968 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 174643761 | 174645153 | Remapped | 1 | |||||||||||
| estd221 | esv3692980 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 176622155 | 176642139 | Remapped | 1 | |||||||||||
| estd221 | esv3692991 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 178690798 | 178705692 | Remapped | 1 | |||||||||||
| estd221 | esv3693002 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 184992503 | 184997882 | Remapped | 1 | |||||||||||
| estd221 | esv3693013 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 187603891 | 187626782 | Remapped | 1 | |||||||||||
| estd221 | esv3693024 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 189118086 | 189120437 | Remapped | 1 | |||||||||||
| estd221 | esv3693035 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 189448561 | 189466224 | Remapped | 1 | |||||||||||
| estd221 | esv3693046 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 189802875 | 189808111 | Remapped | 1 | |||||||||||
| estd221 | esv3693057 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 191867186 | 191906622 | Remapped | 1 | |||||||||||
| estd221 | esv3693068 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 193692496 | 193740566 | Remapped | 1 | |||||||||||
| estd221 | esv3693079 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 194969113 | 194976092 | Remapped | 1 | |||||||||||
| estd221 | esv3693090 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 13994007 | 14044642 | Remapped | 1 | |||||||||||
| estd221 | esv3693091 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 195438277 | 195490280 | Remapped | 1 | |||||||||||
| estd221 | esv3693102 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 196748507 | 196932623 | Remapped | 1 | |||||||||||
| estd221 | esv3693113 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 202333104 | 202339216 | Remapped | 1 | |||||||||||
| estd221 | esv3693124 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 206867314 | 206869218 | Remapped | 1 | |||||||||||
| estd221 | esv3693135 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 231160079 | 231186197 | Remapped | 1 | |||||||||||
| estd221 | esv3693146 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 247552696 | 247567292 | Remapped | 1 | |||||||||||
| estd221 | esv3693157 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 247746712 | 248126849 | Remapped | 1 | |||||||||||
| estd221 | esv3693168 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 4604202 | 4606032 | Remapped | 1 | |||||||||||
| estd221 | esv3693179 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 6157628 | 6167988 | Remapped | 1 | |||||||||||
| estd221 | esv3693190 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 7090857 | 7092347 | Remapped | 1 | |||||||||||
| estd221 | esv3693201 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 25271785 | 25333196 | Remapped | 1 | |||||||||||
| estd221 | esv3693202 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 17990546 | 18018596 | Remapped | 1 | |||||||||||
| estd221 | esv3693213 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 23243995 | 23253176 | Remapped | 1 | |||||||||||
| estd221 | esv3693224 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 24380090 | 24388276 | Remapped | 1 | |||||||||||
| estd221 | esv3693235 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 27543417 | 27555224 | Remapped | 1 | |||||||||||
| estd221 | esv3693246 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 34863168 | 34867695 | Remapped | 1 | |||||||||||
| estd221 | esv3693257 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 35354625 | 35389378 | Remapped | 1 | |||||||||||
| estd221 | esv3693268 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 41011504 | 41021328 | Remapped | 1 | |||||||||||
| estd221 | esv3693279 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 53617765 | 53619410 | Remapped | 1 | |||||||||||
| estd221 | esv3693290 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 54466067 | 54480425 | Remapped | 1 | |||||||||||
| estd221 | esv3693301 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 55097824 | 55107909 | Remapped | 1 | |||||||||||
| estd221 | esv3693312 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 32586359 | 32590067 | Remapped | 1 | |||||||||||
| estd221 | esv3693313 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 56494872 | 56519496 | Remapped | 1 | |||||||||||
| estd221 | esv3693317 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 7785635 | 7803233 | Remapped | 1 | |||||||||||
| estd221 | esv3693318 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 12322574 | 12695683 | Remapped | 1.00009 | |||||||||||
| estd221 | esv3693319 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 61741582 | 61936877 | Remapped | 1 | |||||||||||
| estd221 | esv3693320 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 108109703 | 108214068 | Remapped | 1 | |||||||||||
| estd221 | esv3693321 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 170198561 | 170219507 | Remapped | 1 | |||||||||||
| estd221 | esv3693322 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 191867186 | 191934862 | Remapped | 1 | |||||||||||
| estd221 | esv3693323 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 196854170 | 196925196 | Remapped | 1 | |||||||||||
| estd221 | esv3693324 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 64115335 | 64286073 | Remapped | 1 | |||||||||||
| estd221 | esv3693325 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 238469440 | 238543421 | Remapped | 1 | |||||||||||
| estd221 | esv3693326 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 238922883 | 238960881 | Remapped | 1 | |||||||||||
| estd221 | esv3693327 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 18945146 | 19189538 | Remapped | 0.92963 | |||||||||||
| estd221 | esv3693328 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 32408622 | 33099911 | Remapped | 1 | |||||||||||
| estd221 | esv3693329 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 49434940 | 49512223 | Remapped | 1 | |||||||||||
| estd221 | esv3693330 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 52533315 | 52556534 | Remapped | 1 | |||||||||||
| estd221 | esv3693331 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 52932564 | 52965131 | Remapped | 1 | |||||||||||
| estd221 | esv3693332 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 78630744 | 78643327 | Remapped | 1 | |||||||||||
| estd221 | esv3693333 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 110060256 | 110225473 | Remapped | 1 | |||||||||||
| estd221 | esv3693334 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 117224889 | 117361497 | Remapped | 1 | |||||||||||
| estd221 | esv3693335 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 67532940 | 67535774 | Remapped | 1 | |||||||||||
| estd221 | esv3693336 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 117493061 | 117641566 | Remapped | 1 | |||||||||||
| estd221 | esv3693337 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 141290190 | 141406853 | Remapped | 1 | |||||||||||
| estd221 | esv3693346 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 71115426 | 71124357 | Remapped | 1 | |||||||||||
| estd221 | esv3693357 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 75564963 | 75583629 | Remapped | 1 | |||||||||||
| estd221 | esv3693368 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 78013431 | 78154736 | Remapped | 1 | |||||||||||
| estd221 | esv3693379 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 90055411 | 90208854 | Remapped | 0.99987 | |||||||||||
| estd221 | esv3693390 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 98245634 | 98270203 | Remapped | 1 | |||||||||||
| estd221 | esv3693401 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 114633029 | 114641845 | Remapped | 1 | |||||||||||
| estd221 | esv3693412 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 117018625 | 117029770 | Remapped | 1 | |||||||||||
| estd221 | esv3693422 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 40547343 | 40561077 | Remapped | 1 | |||||||||||
| estd221 | esv3693423 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 127466299 | 127473218 | Remapped | 1 | |||||||||||
| estd221 | esv3693424 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 132523046 | 132551063 | Remapped | 1 | |||||||||||
| estd221 | esv3693425 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 141427234 | 141482030 | Remapped | 1 | |||||||||||
| estd221 | esv3693426 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 150869278 | 151439348 | Remapped | 1 | |||||||||||
| estd221 | esv3693427 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 151446657 | 151463604 | Remapped | 1 | |||||||||||
| estd221 | esv3693428 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 151464418 | 151578382 | Remapped | 1 | |||||||||||
| estd221 | esv3693429 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 151583940 | 151604711 | Remapped | 1 | |||||||||||
| estd221 | esv3693430 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 151792163 | 151824686 | Remapped | 1 | |||||||||||
| estd221 | esv3693431 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 151827217 | 152125313 | Remapped | 1 | |||||||||||
| estd221 | esv3693432 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 152129527 | 152141212 | Remapped | 1 | |||||||||||
| estd221 | esv3693433 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 61963993 | 61982779 | Remapped | 1 | |||||||||||
| estd221 | esv3693434 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 152141953 | 152352199 | Remapped | 1 | |||||||||||
| estd221 | esv3693435 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 152353930 | 152362664 | Remapped | 1 | |||||||||||
| estd221 | esv3693444 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 71021710 | 71023755 | Remapped | 1 |