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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| estd214 | esv3584975 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | |||||||||||
| estd214 | esv3584976 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | |||||||
| estd214 | esv3584977 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 777664 | 820586 | Remapped | 1 | |||||||||||
| estd214 | esv3584979 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 802842 | 803190 | 803190 | 806640 | 806640 | 806994 | Remapped | 1 | |||||||
| estd214 | esv3584980 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 830835 | 831220 | 831220 | 833732 | 833732 | 834135 | Remapped | 1 | |||||||
| estd214 | esv3584981 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 837710 | 917284 | Remapped | 1 | |||||||||||
| estd214 | esv3584983 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 838912 | 839912 | 840412 | 856088 | 856588 | 857588 | Remapped | 1 | |||||||
| estd214 | esv3584984 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 859108 | 859116 | 859124 | 864161 | 864169 | 864177 | Remapped | 1 | |||||||
| estd214 | esv3584985 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 876903 | 876903 | Remapped | 1 | |||||||||||
| estd214 | esv3584986 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 878486 | 878486 | Remapped | 1 | |||||||||||
| estd214 | esv3584987 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 937690 | 938011 | 938011 | 938662 | 938662 | 938998 | Remapped | 1 | |||||||
| estd214 | esv3584988 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1011554 | 1011733 | 1011733 | 1012623 | 1012623 | 1012705 | Remapped | 1 | |||||||
| estd214 | esv3584989 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1028446 | 1038792 | Remapped | 1 | |||||||||||
| estd214 | esv3584990 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1206775 | 1207334 | 1207334 | 1207760 | 1207760 | 1208149 | Remapped | 1 | |||||||
| estd214 | esv3584991 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1236159 | 1244349 | Remapped | 1 | |||||||||||
| estd214 | esv3584992 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1314419 | 1330342 | Remapped | 1 | |||||||||||
| estd214 | esv3584993 | delins | No | GRCh38.p12 | NC_000001.11 | 1 | 1358759 | 1358759 | Remapped | 1 | |||||||||||
| estd214 | esv3584994 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1369572 | 1388148 | Remapped | 1 | |||||||||||
| estd214 | esv3584995 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1452573 | 1453573 | 1454073 | 1474916 | 1475416 | 1476416 | Remapped | 1 | |||||||
| estd214 | esv3584996 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1456002 | 1457002 | 1457502 | 1487553 | 1488053 | 1489053 | Remapped | 1 | |||||||
| estd214 | esv3584997 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1458481 | 1492003 | Remapped | 1 | |||||||||||
| estd214 | esv3584999 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1463845 | 1464845 | 1465345 | 1473227 | 1473727 | 1474727 | Remapped | 1 | |||||||
| estd214 | esv3585000 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1489394 | 1489544 | 1489694 | 1526660 | 1526810 | 1526960 | Remapped | 1 | |||||||
| estd214 | esv3585001 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1502288 | 1502788 | 1502788 | 1514123 | 1514123 | 1514623 | Remapped | 1 | |||||||
| estd214 | esv3585002 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1505925 | 1505954 | 1505983 | 1508433 | 1508462 | 1508491 | Remapped | 1 | |||||||
| estd214 | esv3585003 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1508152 | 1508158 | 1508164 | 1510361 | 1510367 | 1510373 | Remapped | 1 | |||||||
| estd214 | esv3585004 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1582480 | 1582480 | Remapped | 1 | |||||||||||
| estd214 | esv3585005 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1584113 | 1584132 | 1584151 | 1584728 | 1584747 | 1584766 | Remapped | 1 | |||||||
| estd214 | esv3585006 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1587190 | 1587496 | 1587496 | 1589294 | 1589294 | 1589602 | Remapped | 1 | |||||||
| estd214 | esv3585007 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1646187 | 1647187 | 1647687 | 1714007 | 1714507 | 1715507 | Remapped | 1.06186 | |||||||
| estd214 | esv3585008 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1663929 | 1681002 | Remapped | 1 | |||||||||||
| estd214 | esv3585010 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1669280 | 1670280 | 1670780 | 1750638 | 1751138 | 1752138 | Remapped | 1 | |||||||
| estd214 | esv3585011 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1677771 | 1684388 | Remapped | 1 | |||||||||||
| estd214 | esv3585013 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1694226 | 1695226 | 1695726 | 1749109 | 1749609 | 1750609 | Remapped | 1 | |||||||
| estd214 | esv3585014 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1696366 | 1742370 | Remapped | 1 | |||||||||||
| estd214 | esv3585016 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1717568 | 1717608 | 1717649 | 1719044 | 1719084 | 1719125 | Remapped | 1 | |||||||
| estd214 | esv3585017 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1718150 | 1718181 | 1718181 | 1719212 | 1719212 | 1719391 | Remapped | 1 | |||||||
| estd214 | esv3585018 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1840553 | 1840777 | 1840777 | 1842219 | 1842219 | 1842463 | Remapped | 1 | |||||||
| estd214 | esv3585019 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1991466 | 1991507 | 1991549 | 1993098 | 1993139 | 1993181 | Remapped | 1 | |||||||
| estd214 | esv3585020 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2093108 | 2093108 | 2093109 | 2095944 | 2095944 | 2095945 | Remapped | 1 | |||||||
| estd214 | esv3585021 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2097394 | 2121301 | Remapped | 1 | |||||||||||
| estd214 | esv3585023 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2230576 | 2230667 | 2230667 | 2231761 | 2231761 | 2231836 | Remapped | 1 | |||||||
| estd214 | esv3585024 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2371889 | 2372389 | 2372389 | 2388889 | 2388889 | 2389389 | Remapped | 1 | |||||||
| estd214 | esv3585025 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2440714 | 2440761 | 2440808 | 2442678 | 2442725 | 2442772 | Remapped | 1 | |||||||
| estd214 | esv3585026 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2442787 | 2448384 | Remapped | 1 | |||||||||||
| estd214 | esv3585028 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2466216 | 2470030 | Remapped | 1 | |||||||||||
| estd214 | esv3585029 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2593096 | 2593107 | 2593119 | 2596277 | 2596288 | 2596300 | Remapped | 1 | |||||||
| estd214 | esv3585030 | delins | No | GRCh38.p12 | NC_000001.11 | 1 | 2602116 | 2602116 | Remapped | 1 | |||||||||||
| estd214 | esv3585031 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2767758 | 2802942 | Remapped | 0.99949 | |||||||||||
| estd214 | esv3585032 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2776299 | 2776470 | 2776470 | 2780643 | 2780643 | 2780800 | Remapped | 1.00072 | |||||||
| estd214 | esv3585033 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2931398 | 2981801 | Remapped | 1.00002 | |||||||||||
| estd214 | esv3585034 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2932083 | 2932096 | 2932110 | 2933553 | 2933566 | 2933580 | Remapped | 1 | |||||||
| estd214 | esv3585035 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3001969 | 3002095 | 3002095 | 3003382 | 3003382 | 3003566 | Remapped | 1 | |||||||
| estd214 | esv3585036 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3004067 | 3089193 | Remapped | 1 | |||||||||||
| estd214 | esv3585037 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3021268 | 3062918 | Remapped | 1 | |||||||||||
| estd214 | esv3585038 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3092883 | 3220584 | Remapped | 1 | |||||||||||
| estd214 | esv3585039 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 3095323 | 3095323 | Remapped | 1 | |||||||||||
| estd214 | esv3585040 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3228160 | 3293218 | Remapped | 1 | |||||||||||
| estd214 | esv3585041 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3293082 | 3293358 | 3293358 | 3295622 | 3295622 | 3295906 | Remapped | 1 | |||||||
| estd214 | esv3585042 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3585425 | 3585575 | 3585725 | 4259933 | 4260083 | 4260233 | Remapped | 0.82458 | |||||||
| estd214 | esv3585043 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3592373 | 3592400 | 3592428 | 3598668 | 3598695 | 3598723 | Remapped | 1 | |||||||
| estd214 | esv3585044 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3611044 | 3637348 | Remapped | 1 | |||||||||||
| estd214 | esv3585045 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3611161 | 3686920 | Remapped | 1 | |||||||||||
| estd214 | esv3585046 | delins | No | GRCh38.p12 | NC_000001.11 | 1 | 3732455 | 3732455 | Remapped | 1 | |||||||||||
| estd214 | esv3585047 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3753916 | 3753926 | 3753937 | 3755102 | 3755112 | 3755123 | Remapped | 1 | |||||||
| estd214 | esv3585048 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3756213 | 3768898 | Remapped | 1 | |||||||||||
| estd214 | esv3585049 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3781658 | 3794952 | Remapped | 1 | |||||||||||
| estd214 | esv3585051 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 3787399 | 3787399 | Remapped | 1 | |||||||||||
| estd214 | esv3585052 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3817921 | 3928224 | Remapped | 1 | |||||||||||
| estd214 | esv3585054 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3935264 | 3941914 | Remapped | 0.99985 | |||||||||||
| estd214 | esv3585055 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3940467 | 4087157 | Remapped | 1 | |||||||||||
| estd214 | esv3585056 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3945789 | 4054532 | Remapped | 1 | |||||||||||
| estd214 | esv3585057 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4015884 | 4015895 | 4015907 | 4017892 | 4017903 | 4017915 | Remapped | 1 | |||||||
| estd214 | esv3585058 | delins | No | GRCh38.p12 | NC_000001.11 | 1 | 4114597 | 4114597 | Remapped | 1 | |||||||||||
| estd214 | esv3585059 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4134169 | 4134231 | 4134231 | 4136103 | 4136103 | 4136166 | Remapped | 1 | |||||||
| estd214 | esv3585060 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4137399 | 4160304 | Remapped | 1 | |||||||||||
| estd214 | esv3585061 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4171997 | 4172014 | 4172032 | 4173036 | 4173053 | 4173071 | Remapped | 1 | |||||||
| estd214 | esv3585062 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4203541 | 4292960 | Remapped | 1 | |||||||||||
| estd214 | esv3585063 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4224249 | 4224450 | 4224450 | 4225892 | 4225892 | 4226077 | Remapped | 1 | |||||||
| estd214 | esv3585064 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 4228405 | 4228405 | Remapped | 1 | |||||||||||
| estd214 | esv3585065 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4229305 | 4229315 | 4229326 | 4235768 | 4235778 | 4235789 | Remapped | 1 | |||||||
| estd214 | esv3585066 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4267382 | 4289122 | Remapped | 1 | |||||||||||
| estd214 | esv3585067 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4304204 | 4304538 | 4304538 | 4306754 | 4306754 | 4307022 | Remapped | 1 | |||||||
| estd214 | esv3585068 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4350187 | 4350687 | 4350687 | 4359597 | 4359597 | 4360097 | Remapped | 1 | |||||||
| estd214 | esv3585069 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4357568 | 4358568 | 4359068 | 4369547 | 4370047 | 4371047 | Remapped | 1 | |||||||
| estd214 | esv3585070 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4465371 | 4465669 | 4465669 | 4471297 | 4471297 | 4471630 | Remapped | 1 | |||||||
| estd214 | esv3585071 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4466082 | 4471292 | Remapped | 1 | |||||||||||
| estd214 | esv3585073 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 4471982 | 4471982 | Remapped | 1 | |||||||||||
| estd214 | esv3585074 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4500458 | 4500958 | 4500958 | 4504807 | 4504807 | 4505307 | Remapped | 1 | |||||||
| estd214 | esv3585075 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4649583 | 4649727 | 4649727 | 4654155 | 4654155 | 4654380 | Remapped | 1 | |||||||
| estd214 | esv3585076 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4762960 | 4763124 | 4763124 | 4769614 | 4769614 | 4769786 | Remapped | 1 | |||||||
| estd214 | esv3585077 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4821987 | 4822172 | 4822172 | 4822980 | 4822980 | 4823334 | Remapped | 1 | |||||||
| estd214 | esv3585078 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4839221 | 4839236 | 4839251 | 4840469 | 4840484 | 4840499 | Remapped | 1 | |||||||
| estd214 | esv3585079 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4842320 | 4843320 | 4843820 | 4858740 | 4859240 | 4860240 | Remapped | 1 | |||||||
| estd214 | esv3585080 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4967954 | 4968006 | 4968058 | 4996095 | 4996147 | 4996199 | Remapped | 1 | |||||||
| estd214 | esv3585081 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 4987066 | 4987066 | Remapped | 1 | |||||||||||
| estd214 | esv3585082 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 5003228 | 5003228 | 5003229 | 5003829 | 5003829 | 5003830 | Remapped | 1 | |||||||
| estd214 | esv3585083 | mobile element insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 5029619 | 5029619 | Remapped | 1 | |||||||||||
| estd214 | esv3585084 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 5103548 | 5103592 | 5103636 | 5104997 | 5105041 | 5105085 | Remapped | 1 | |||||||
| estd214 | esv3585085 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 5105093 | 5105180 | 5105314 | 5106096 | 5106146 | 5106233 | Remapped | 1 |