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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd194 | esv1934189 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1059926 | 1059927 | Remapped | 1 | |||||||||||
estd194 | esv1936715 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1296824 | 1296824 | Remapped | 1 | |||||||||||
estd194 | esv1952957 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 888569 | 888573 | Remapped | 1 | |||||||||||
estd194 | esv1963715 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 880017 | 880018 | Remapped | 1 | |||||||||||
estd194 | esv1963964 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 879449 | 879449 | Remapped | 1 | |||||||||||
estd194 | esv1974263 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 886993 | 886993 | Remapped | 1 | |||||||||||
estd194 | esv1975826 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 971898 | 971903 | Remapped | 1 | |||||||||||
estd194 | esv1981388 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1279729 | 1279730 | Remapped | 1 | |||||||||||
estd194 | esv1992715 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 880282 | 880283 | Remapped | 1 | |||||||||||
estd194 | esv1996820 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 933742 | 933742 | Remapped | 1 | |||||||||||
estd194 | esv1997427 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 907237 | 907238 | Remapped | 1 | |||||||||||
estd194 | esv2007167 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 890040 | 890040 | Remapped | 1 | |||||||||||
estd194 | esv2012806 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1292285 | 1292289 | Remapped | 1 | |||||||||||
estd194 | esv2018705 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 967377 | 967378 | Remapped | 1 | |||||||||||
estd194 | esv2023064 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1056426 | 1056432 | Remapped | 1 | |||||||||||
estd194 | esv2029203 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 816120 | 816120 | Remapped | 1 | |||||||||||
estd194 | esv2030061 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 989069 | 989073 | Remapped | 1 | |||||||||||
estd194 | esv2036751 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1050079 | 1050080 | Remapped | 1 | |||||||||||
estd194 | esv2040086 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1035182 | 1035184 | Remapped | 1 | |||||||||||
estd194 | esv2047380 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 869214 | 869215 | Remapped | 1 | |||||||||||
estd194 | esv2052654 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 969649 | 969653 | Remapped | 1 | |||||||||||
estd194 | esv2057033 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 871923 | 871923 | Remapped | 1 | |||||||||||
estd194 | esv2057110 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 898758 | 898758 | Remapped | 1 | |||||||||||
estd194 | esv2061406 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1278408 | 1278408 | Remapped | 1 | |||||||||||
estd194 | esv2062853 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1059016 | 1059017 | Remapped | 1 | |||||||||||
estd194 | esv2065404 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1002193 | 1002193 | Remapped | 1 | |||||||||||
estd194 | esv2066434 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 936113 | 936265 | 936403 | 936487 | Remapped | 1 | |||||||||
estd194 | esv2073051 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 995509 | 995514 | Remapped | 1 | |||||||||||
estd194 | esv2076313 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1257407 | 1257407 | Remapped | 1 | |||||||||||
estd194 | esv2081209 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1013467 | 1013467 | Remapped | 1 | |||||||||||
estd194 | esv2085402 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 887803 | 887804 | Remapped | 1 | |||||||||||
estd194 | esv2090417 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1276223 | 1276223 | Remapped | 1 | |||||||||||
estd194 | esv2095853 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1175608 | 1175608 | Remapped | 1 | |||||||||||
estd194 | esv2106414 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1288188 | 1288230 | 1290263 | 1290369 | Remapped | 1 | |||||||||
estd194 | esv2109746 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 932614 | 932618 | Remapped | 1 | |||||||||||
estd194 | esv2115150 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 890403 | 890404 | Remapped | 1 | |||||||||||
estd194 | esv2120193 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1250839 | 1250839 | Remapped | 1 | |||||||||||
estd194 | esv2120322 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 845678 | 845679 | Remapped | 1 | |||||||||||
estd194 | esv2124485 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 889956 | 889956 | Remapped | 1 | |||||||||||
estd194 | esv2139488 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1004112 | 1004113 | Remapped | 1 | |||||||||||
estd194 | esv2140795 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 951438 | 951438 | Remapped | 1 | |||||||||||
estd194 | esv2142939 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 993603 | 993603 | Remapped | 1 | |||||||||||
estd194 | esv2145648 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 784110 | 784110 | Remapped | 1 | |||||||||||
estd194 | esv2148870 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1010482 | 1010486 | Remapped | 1 | |||||||||||
estd194 | esv2159326 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 855317 | 855317 | Remapped | 1 | |||||||||||
estd194 | esv2165930 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 881168 | 881170 | Remapped | 1 | |||||||||||
estd194 | esv2166057 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 947401 | 947401 | Remapped | 1 | |||||||||||
estd194 | esv2169106 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 832740 | 832743 | Remapped | 1 | |||||||||||
estd194 | esv2179087 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1005430 | 1005430 | Remapped | 1 | |||||||||||
estd194 | esv2194380 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1263832 | 1263832 | Remapped | 1 | |||||||||||
estd194 | esv2196674 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1071134 | 1071134 | Remapped | 1 | |||||||||||
estd194 | esv2201412 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 880422 | 880422 | Remapped | 1 | |||||||||||
estd194 | esv2207792 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1168311 | 1168311 | Remapped | 1 | |||||||||||
estd194 | esv2207919 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1282559 | 1282559 | Remapped | 1 | |||||||||||
estd194 | esv2216129 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1050064 | 1050065 | Remapped | 1 | |||||||||||
estd194 | esv2219309 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 913449 | 913450 | Remapped | 1 | |||||||||||
estd194 | esv2219893 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1017115 | 1017115 | Remapped | 1 | |||||||||||
estd194 | esv2220456 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1162028 | 1162032 | Remapped | 1 | |||||||||||
estd194 | esv2229494 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 851690 | 851692 | Remapped | 1 | |||||||||||
estd194 | esv2232307 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 943137 | 943138 | Remapped | 1 | |||||||||||
estd194 | esv2232978 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 885983 | 885984 | Remapped | 1 | |||||||||||
estd194 | esv2241790 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 927443 | 927443 | Remapped | 1 | |||||||||||
estd194 | esv2241821 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1125127 | 1125127 | Remapped | 1 | |||||||||||
estd194 | esv2245797 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 969378 | 969378 | Remapped | 1 | |||||||||||
estd194 | esv2259860 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 858034 | 858034 | Remapped | 1 | |||||||||||
estd194 | esv2262164 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 890447 | 890447 | Remapped | 1 | |||||||||||
estd194 | esv2262548 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1145767 | 1145768 | Remapped | 1 | |||||||||||
estd194 | esv2262797 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1104819 | 1104820 | Remapped | 1 | |||||||||||
estd194 | esv2269888 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 842923 | 842923 | Remapped | 1 | |||||||||||
estd194 | esv2272481 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1056279 | 1056280 | Remapped | 1 | |||||||||||
estd194 | esv2287695 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1013042 | 1013042 | Remapped | 1 | |||||||||||
estd194 | esv2288931 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 950670 | 950673 | Remapped | 1 | |||||||||||
estd194 | esv2294163 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 880963 | 880964 | Remapped | 1 | |||||||||||
estd194 | esv2298544 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 880432 | 880436 | Remapped | 1 | |||||||||||
estd194 | esv2300849 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 969664 | 969666 | Remapped | 1 | |||||||||||
estd194 | esv2301552 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 937407 | 937409 | Remapped | 1 | |||||||||||
estd194 | esv2305268 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 969489 | 969491 | Remapped | 1 | |||||||||||
estd194 | esv2315820 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 888959 | 888960 | Remapped | 1 | |||||||||||
estd194 | esv2317109 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1151270 | 1151406 | 1151642 | 1151801 | Remapped | 1 | |||||||||
estd194 | esv2320631 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 897581 | 897582 | Remapped | 1 | |||||||||||
estd194 | esv2324081 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1134144 | 1134144 | Remapped | 1 | |||||||||||
estd194 | esv2324253 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1039411 | 1039411 | Remapped | 1 | |||||||||||
estd194 | esv2341820 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 923312 | 923313 | Remapped | 1 | |||||||||||
estd194 | esv2343397 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 881794 | 881795 | Remapped | 1 | |||||||||||
estd194 | esv2348311 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 882961 | 882964 | Remapped | 1 | |||||||||||
estd194 | esv2363804 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 890012 | 890015 | Remapped | 1 | |||||||||||
estd194 | esv2371182 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 885462 | 885462 | Remapped | 1 | |||||||||||
estd194 | esv2375147 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 888360 | 888360 | Remapped | 1 | |||||||||||
estd194 | esv2377000 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1028320 | 1028321 | Remapped | 1 | |||||||||||
estd194 | esv2380973 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1062390 | 1062391 | Remapped | 1 | |||||||||||
estd194 | esv2384806 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 857949 | 857949 | Remapped | 1 | |||||||||||
estd194 | esv2387325 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 881033 | 881034 | Remapped | 1 | |||||||||||
estd194 | esv2387911 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 937397 | 937399 | Remapped | 1 | |||||||||||
estd194 | esv2392721 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1297052 | 1297054 | Remapped | 1 | |||||||||||
estd194 | esv2403416 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 855379 | 855381 | Remapped | 1 | |||||||||||
estd194 | esv2407560 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 958079 | 958083 | Remapped | 1 | |||||||||||
estd194 | esv2412360 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 949170 | 949174 | Remapped | 1 | |||||||||||
estd194 | esv2413219 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 911221 | 911222 | Remapped | 1 | |||||||||||
estd194 | esv2413682 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1005773 | 1005773 | Remapped | 1 | |||||||||||
estd194 | esv2418912 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1014734 | 1014738 | Remapped | 1 |