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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| estd219 | esv3818095 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | |||||||||||
| estd219 | esv3818096 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | |||||||
| estd219 | esv3818097 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 777664 | 820586 | Remapped | 1 | |||||||||||
| estd219 | esv3818099 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 802842 | 803190 | 803190 | 806640 | 806640 | 806994 | Remapped | 1 | |||||||
| estd219 | esv3818100 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 830835 | 831220 | 831220 | 833732 | 833732 | 834135 | Remapped | 1 | |||||||
| estd219 | esv3818101 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 837710 | 917284 | Remapped | 1 | |||||||||||
| estd219 | esv3818103 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 838912 | 839912 | 840412 | 856088 | 856588 | 857588 | Remapped | 1 | |||||||
| estd219 | esv3818104 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 859108 | 859116 | 859124 | 864161 | 864169 | 864177 | Remapped | 1 | |||||||
| estd219 | esv3818105 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 876903 | 876903 | Remapped | 1 | |||||||||||
| estd219 | esv3818106 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 878486 | 878486 | Remapped | 1 | |||||||||||
| estd219 | esv3818107 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 937690 | 938011 | 938011 | 938662 | 938662 | 938998 | Remapped | 1 | |||||||
| estd219 | esv3818108 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1004539 | 1004588 | Remapped | 1 | |||||||||||
| estd219 | esv3818109 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1011554 | 1011733 | 1011733 | 1012623 | 1012623 | 1012705 | Remapped | 1 | |||||||
| estd219 | esv3818110 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1028446 | 1038792 | Remapped | 1 | |||||||||||
| estd219 | esv3818111 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1053193 | 1053243 | Remapped | 1 | |||||||||||
| estd219 | esv3818112 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1084113 | 1084439 | Remapped | 1 | |||||||||||
| estd219 | esv3818113 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1123519 | 1123598 | Remapped | 1 | |||||||||||
| estd219 | esv3818114 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1151438 | 1151643 | Remapped | 1 | |||||||||||
| estd219 | esv3818115 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1206775 | 1207334 | 1207334 | 1207760 | 1207760 | 1208149 | Remapped | 1 | |||||||
| estd219 | esv3818116 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1226314 | 1226376 | Remapped | 1 | |||||||||||
| estd219 | esv3818117 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1236159 | 1244349 | Remapped | 1 | |||||||||||
| estd219 | esv3818118 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1305330 | 1305411 | Remapped | 1 | |||||||||||
| estd219 | esv3818119 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1314419 | 1330342 | Remapped | 1 | |||||||||||
| estd219 | esv3818120 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1358759 | 1358815 | Remapped | 1 | |||||||||||
| estd219 | esv3818121 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1369572 | 1388148 | Remapped | 1 | |||||||||||
| estd219 | esv3818122 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1452573 | 1453573 | 1454073 | 1474916 | 1475416 | 1476416 | Remapped | 1 | |||||||
| estd219 | esv3818123 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1456002 | 1457002 | 1457502 | 1487553 | 1488053 | 1489053 | Remapped | 1 | |||||||
| estd219 | esv3818124 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1458481 | 1492003 | Remapped | 1 | |||||||||||
| estd219 | esv3818126 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1463845 | 1464845 | 1465345 | 1473227 | 1473727 | 1474727 | Remapped | 1 | |||||||
| estd219 | esv3818127 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1482489 | 1482548 | Remapped | 1 | |||||||||||
| estd219 | esv3818128 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1489394 | 1489544 | 1489694 | 1526660 | 1526810 | 1526960 | Remapped | 1 | |||||||
| estd219 | esv3818129 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1502288 | 1502788 | 1502788 | 1514123 | 1514123 | 1514623 | Remapped | 1 | |||||||
| estd219 | esv3818130 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1505925 | 1505954 | 1505983 | 1508433 | 1508462 | 1508491 | Remapped | 1 | |||||||
| estd219 | esv3818131 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1508152 | 1508158 | 1508164 | 1510361 | 1510367 | 1510373 | Remapped | 1 | |||||||
| estd219 | esv3818132 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1582480 | 1582480 | Remapped | 1 | |||||||||||
| estd219 | esv3818133 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1584113 | 1584132 | 1584151 | 1584728 | 1584747 | 1584766 | Remapped | 1 | |||||||
| estd219 | esv3818134 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1587190 | 1587496 | 1587496 | 1589294 | 1589294 | 1589602 | Remapped | 1 | |||||||
| estd219 | esv3818135 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1646187 | 1647187 | 1647687 | 1714007 | 1714507 | 1715507 | Remapped | 1.06186 | |||||||
| estd219 | esv3818136 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1663929 | 1681002 | Remapped | 1 | |||||||||||
| estd219 | esv3818138 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1669280 | 1670280 | 1670780 | 1750638 | 1751138 | 1752138 | Remapped | 1 | |||||||
| estd219 | esv3818139 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1677771 | 1684388 | Remapped | 1 | |||||||||||
| estd219 | esv3818141 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1694226 | 1695226 | 1695726 | 1749109 | 1749609 | 1750609 | Remapped | 1 | |||||||
| estd219 | esv3818142 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1696366 | 1742370 | Remapped | 1 | |||||||||||
| estd219 | esv3818144 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1717568 | 1717608 | 1717649 | 1719044 | 1719084 | 1719125 | Remapped | 1 | |||||||
| estd219 | esv3818145 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1718150 | 1718181 | 1718181 | 1719212 | 1719212 | 1719391 | Remapped | 1 | |||||||
| estd219 | esv3818146 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1840553 | 1840777 | 1840777 | 1842219 | 1842219 | 1842463 | Remapped | 1 | |||||||
| estd219 | esv3818147 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1991466 | 1991507 | 1991549 | 1993098 | 1993139 | 1993181 | Remapped | 1 | |||||||
| estd219 | esv3818148 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2093108 | 2093108 | 2093109 | 2095944 | 2095944 | 2095945 | Remapped | 1 | |||||||
| estd219 | esv3818149 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2097394 | 2121301 | Remapped | 1 | |||||||||||
| estd219 | esv3818151 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2230576 | 2230667 | 2230667 | 2231761 | 2231761 | 2231836 | Remapped | 1 | |||||||
| estd219 | esv3818152 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2371889 | 2372389 | 2372389 | 2388889 | 2388889 | 2389389 | Remapped | 1 | |||||||
| estd219 | esv3818153 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2440714 | 2440761 | 2440808 | 2442678 | 2442725 | 2442772 | Remapped | 1 | |||||||
| estd219 | esv3818154 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2442787 | 2448384 | Remapped | 1 | |||||||||||
| estd219 | esv3818155 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2466216 | 2470030 | Remapped | 1 | |||||||||||
| estd219 | esv3818157 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2476274 | 2476414 | Remapped | 1 | |||||||||||
| estd219 | esv3818158 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2593096 | 2593107 | 2593119 | 2596277 | 2596288 | 2596300 | Remapped | 1 | |||||||
| estd219 | esv3818159 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2691886 | 2691966 | Remapped | 1 | |||||||||||
| estd219 | esv3818160 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2699465 | 2699521 | Remapped | 1 | |||||||||||
| estd219 | esv3818161 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2767758 | 2802942 | Remapped | 0.99949 | |||||||||||
| estd219 | esv3818162 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2776299 | 2776470 | 2776470 | 2780643 | 2780643 | 2780800 | Remapped | 1.00072 | |||||||
| estd219 | esv3818163 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2784972 | 2785001 | Remapped | 0.6 | |||||||||||
| estd219 | esv3818164 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2788291 | 2788352 | Remapped | 1 | |||||||||||
| estd219 | esv3818165 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2896723 | 2896773 | Remapped | 1 | |||||||||||
| estd219 | esv3818166 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2896984 | 2897053 | Remapped | 1 | |||||||||||
| estd219 | esv3818167 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2931398 | 2981801 | Remapped | 1.00002 | |||||||||||
| estd219 | esv3818168 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2932083 | 2932096 | 2932110 | 2933553 | 2933566 | 2933580 | Remapped | 1 | |||||||
| estd219 | esv3818169 | mobile element deletion | No | GRCh38.p12 | NC_000001.11 | 1 | 2994973 | 2995286 | Remapped | 1 | |||||||||||
| estd219 | esv3818170 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3001969 | 3002095 | 3002095 | 3003382 | 3003382 | 3003566 | Remapped | 1 | |||||||
| estd219 | esv3818171 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3004067 | 3089193 | Remapped | 1 | |||||||||||
| estd219 | esv3818172 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3021268 | 3062918 | Remapped | 1 | |||||||||||
| estd219 | esv3818173 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3092883 | 3220584 | Remapped | 1 | |||||||||||
| estd219 | esv3818174 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 3095323 | 3095323 | Remapped | 1 | |||||||||||
| estd219 | esv3818175 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3146510 | 3146715 | Remapped | 1 | |||||||||||
| estd219 | esv3818176 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3181808 | 3181925 | Remapped | 1 | |||||||||||
| estd219 | esv3818177 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3228160 | 3293218 | Remapped | 1 | |||||||||||
| estd219 | esv3818178 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3270386 | 3270540 | Remapped | 1 | |||||||||||
| estd219 | esv3818179 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3293082 | 3293358 | 3293358 | 3295622 | 3295622 | 3295906 | Remapped | 1 | |||||||
| estd219 | esv3818180 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3565288 | 3565352 | Remapped | 1 | |||||||||||
| estd219 | esv3818181 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3571710 | 3571766 | Remapped | 1 | |||||||||||
| estd219 | esv3818182 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3592373 | 3592400 | 3592428 | 3598668 | 3598695 | 3598723 | Remapped | 1 | |||||||
| estd219 | esv3818183 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3611044 | 3637348 | Remapped | 1 | |||||||||||
| estd219 | esv3818184 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3611161 | 3686920 | Remapped | 1 | |||||||||||
| estd219 | esv3818185 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3665160 | 3665683 | Remapped | 1 | |||||||||||
| estd219 | esv3818186 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3753916 | 3753926 | 3753937 | 3755102 | 3755112 | 3755123 | Remapped | 1 | |||||||
| estd219 | esv3818187 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3756213 | 3768898 | Remapped | 1 | |||||||||||
| estd219 | esv3818188 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3781658 | 3794952 | Remapped | 1 | |||||||||||
| estd219 | esv3818190 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 3787399 | 3787399 | Remapped | 1 | |||||||||||
| estd219 | esv3818191 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3817921 | 3928224 | Remapped | 1 | |||||||||||
| estd219 | esv3818193 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3935264 | 3941914 | Remapped | 0.99985 | |||||||||||
| estd219 | esv3818194 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3940467 | 4087157 | Remapped | 1 | |||||||||||
| estd219 | esv3818195 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3945789 | 4054532 | Remapped | 1 | |||||||||||
| estd219 | esv3818196 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4015884 | 4015895 | 4015907 | 4017892 | 4017903 | 4017915 | Remapped | 1 | |||||||
| estd219 | esv3818197 | mobile element deletion | No | GRCh38.p12 | NC_000001.11 | 1 | 4095087 | 4095400 | Remapped | 1 | |||||||||||
| estd219 | esv3818198 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4114597 | 4114647 | Remapped | 1 | |||||||||||
| estd219 | esv3818199 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4134169 | 4134231 | 4134231 | 4136103 | 4136103 | 4136166 | Remapped | 1 | |||||||
| estd219 | esv3818200 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4137399 | 4160304 | Remapped | 1 | |||||||||||
| estd219 | esv3818201 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4144608 | 4144657 | Remapped | 1 | |||||||||||
| estd219 | esv3818202 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4171997 | 4172014 | 4172032 | 4173036 | 4173053 | 4173071 | Remapped | 1 | |||||||
| estd219 | esv3818203 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4203541 | 4292960 | Remapped | 1 | |||||||||||
| estd219 | esv3818204 | mobile element deletion | No | GRCh38.p12 | NC_000001.11 | 1 | 4211139 | 4211420 | Remapped | 1 |