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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 | essv4499313 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 913449 | 913450 | Remapped | 1 | ||||||||
estd194 | essv4504147 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 887803 | 887804 | Remapped | 1 | ||||||||
estd194 | essv4531065 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 890040 | 890040 | Remapped | 1 | ||||||||
estd194 | essv4543376 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 923312 | 923313 | Remapped | 1 | ||||||||
estd194 | essv4545476 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 869214 | 869215 | Remapped | 1 | ||||||||
estd194 | essv4546012 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 947401 | 947401 | Remapped | 1 | ||||||||
estd194 | essv4551437 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 857949 | 857949 | Remapped | 1 | ||||||||
estd194 | essv4560942 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 858034 | 858034 | Remapped | 1 | ||||||||
estd194 | essv4563074 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 855379 | 855381 | Remapped | 1 | ||||||||
estd194 | essv4577878 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 949170 | 949174 | Remapped | 1 | ||||||||
estd194 | essv4599196 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 907237 | 907238 | Remapped | 1 | ||||||||
estd194 | essv4603463 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 845678 | 845679 | Remapped | 1 | ||||||||
estd194 | essv4612272 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 880432 | 880436 | Remapped | 1 | ||||||||
estd194 | essv4623027 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 881033 | 881034 | Remapped | 1 | ||||||||
estd194 | essv4624832 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 897581 | 897582 | Remapped | 1 | ||||||||
estd194 | essv4626256 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 816120 | 816120 | Remapped | 1 | ||||||||
estd194 | essv4637190 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 885983 | 885984 | Remapped | 1 | ||||||||
estd194 | essv4641708 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 937397 | 937399 | Remapped | 1 | ||||||||
estd194 | essv4643302 | deletion | Sequencing | Paired-end mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 936113 | 936265 | 936403 | 936487 | Remapped | 1 | ||||||
estd194 | essv4659504 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 898758 | 898758 | Remapped | 1 | ||||||||
estd194 | essv4664265 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 880282 | 880283 | Remapped | 1 | ||||||||
estd194 | essv4686404 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 889956 | 889956 | Remapped | 1 | ||||||||
estd194 | essv4688308 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 882961 | 882964 | Remapped | 1 | ||||||||
estd194 | essv4698939 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 943137 | 943138 | Remapped | 1 | ||||||||
estd194 | essv4728354 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 784110 | 784110 | Remapped | 1 | ||||||||
estd194 | essv4738339 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 855317 | 855317 | Remapped | 1 | ||||||||
estd194 | essv4740070 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 890403 | 890404 | Remapped | 1 | ||||||||
estd194 | essv4752389 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 881168 | 881170 | Remapped | 1 | ||||||||
estd194 | essv4755316 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 880963 | 880964 | Remapped | 1 | ||||||||
estd194 | essv4765084 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 851690 | 851692 | Remapped | 1 | ||||||||
estd194 | essv4769553 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 890447 | 890447 | Remapped | 1 | ||||||||
estd194 | essv4789698 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 886993 | 886993 | Remapped | 1 | ||||||||
estd194 | essv4793385 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 880422 | 880422 | Remapped | 1 | ||||||||
estd194 | essv4801108 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 880017 | 880018 | Remapped | 1 | ||||||||
estd194 | essv4803716 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 932614 | 932618 | Remapped | 1 | ||||||||
estd194 | essv4804954 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 927443 | 927443 | Remapped | 1 | ||||||||
estd194 | essv4806117 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 832740 | 832743 | Remapped | 1 | ||||||||
estd194 | essv4838940 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 888569 | 888573 | Remapped | 1 | ||||||||
estd194 | essv4863227 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 885462 | 885462 | Remapped | 1 | ||||||||
estd194 | essv4865218 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 911221 | 911222 | Remapped | 1 | ||||||||
estd194 | essv4868723 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 937407 | 937409 | Remapped | 1 | ||||||||
estd194 | essv4871347 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 888360 | 888360 | Remapped | 1 | ||||||||
estd194 | essv4917137 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 871923 | 871923 | Remapped | 1 | ||||||||
estd194 | essv4918074 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 881794 | 881795 | Remapped | 1 | ||||||||
estd194 | essv4939961 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 890012 | 890015 | Remapped | 1 | ||||||||
estd194 | essv4949890 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 879449 | 879449 | Remapped | 1 | ||||||||
estd194 | essv4962428 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 888959 | 888960 | Remapped | 1 | ||||||||
estd194 | essv4975226 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 933742 | 933742 | Remapped | 1 | ||||||||
estd194 | essv4980746 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 950670 | 950673 | Remapped | 1 | ||||||||
estd194 | essv4998976 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 842923 | 842923 | 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 | 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 | esv2029203 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 816120 | 816120 | Remapped | 1 | |||||||||||
estd194 | esv2047380 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 869214 | 869215 | 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 | esv2066434 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 936113 | 936265 | 936403 | 936487 | Remapped | 1 | |||||||||
estd194 | esv2085402 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 887803 | 887804 | 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 | 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 | esv2145648 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 784110 | 784110 | 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 | esv2201412 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 880422 | 880422 | Remapped | 1 | |||||||||||
estd194 | esv2219309 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 913449 | 913450 | 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 | 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 | esv2269888 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 842923 | 842923 | 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 | esv2301552 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 937407 | 937409 | Remapped | 1 | |||||||||||
estd194 | esv2315820 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 888959 | 888960 | Remapped | 1 | |||||||||||
estd194 | esv2320631 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 897581 | 897582 | 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 | 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 | esv2403416 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 855379 | 855381 | 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 |