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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd195 | essv5003208 | deletion | SNP array | SNP genotyping analysis | No | NA19373 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5005423 | deletion | SNP array | SNP genotyping analysis | No | NA19664 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5005447 | deletion | SNP array | SNP genotyping analysis | No | NA19249 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5009796 | deletion | SNP array | SNP genotyping analysis | No | NA19318 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5011379 | deletion | SNP array | SNP genotyping analysis | No | NA19130 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5011913 | deletion | SNP array | SNP genotyping analysis | No | NA18869 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5012227 | deletion | SNP array | SNP genotyping analysis | No | NA19035 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5012723 | deletion | SNP array | SNP genotyping analysis | No | NA19132 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5013970 | deletion | SNP array | SNP genotyping analysis | No | NA20348 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5014103 | deletion | SNP array | SNP genotyping analysis | No | NA19444 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5014120 | deletion | SNP array | SNP genotyping analysis | No | NA19321 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5015810 | deletion | SNP array | SNP genotyping analysis | No | NA20288 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5016176 | deletion | SNP array | SNP genotyping analysis | No | NA19215 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5019834 | deletion | SNP array | SNP genotyping analysis | No | NA19915 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5021464 | deletion | SNP array | SNP genotyping analysis | No | NA19702 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5022164 | deletion | SNP array | SNP genotyping analysis | No | NA19352 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5022989 | deletion | SNP array | SNP genotyping analysis | No | NA19109 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5028046 | deletion | SNP array | SNP genotyping analysis | No | NA19154 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5028433 | deletion | SNP array | SNP genotyping analysis | No | NA18912 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5029372 | deletion | SNP array | SNP genotyping analysis | No | NA18505 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5030658 | deletion | SNP array | SNP genotyping analysis | No | NA20295 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5031289 | deletion | SNP array | SNP genotyping analysis | No | NA20363 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5031784 | deletion | SNP array | SNP genotyping analysis | No | NA19705 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5031808 | deletion | SNP array | SNP genotyping analysis | No | NA18867 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5032695 | deletion | SNP array | SNP genotyping analysis | No | NA18933 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5033256 | deletion | SNP array | SNP genotyping analysis | No | NA19184 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5033654 | deletion | SNP array | SNP genotyping analysis | No | NA19703 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5037021 | deletion | SNP array | SNP genotyping analysis | No | NA19248 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5037691 | deletion | SNP array | SNP genotyping analysis | No | NA19107 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5038470 | deletion | SNP array | SNP genotyping analysis | No | NA19471 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5045696 | deletion | SNP array | SNP genotyping analysis | No | NA21418 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5048097 | deletion | SNP array | SNP genotyping analysis | No | NA18853 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5049783 | deletion | SNP array | SNP genotyping analysis | No | NA19186 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5053091 | deletion | SNP array | SNP genotyping analysis | No | NA18933 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5053733 | deletion | SNP array | SNP genotyping analysis | No | NA20347 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5053735 | deletion | SNP array | SNP genotyping analysis | No | NA19215 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5054475 | deletion | SNP array | SNP genotyping analysis | No | NA20322 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5059809 | deletion | SNP array | SNP genotyping analysis | No | NA21441 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5060455 | deletion | SNP array | SNP genotyping analysis | No | NA19434 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5060745 | deletion | SNP array | SNP genotyping analysis | No | NA19204 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5062374 | deletion | SNP array | SNP genotyping analysis | No | NA21520 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5062929 | deletion | SNP array | SNP genotyping analysis | No | NA19374 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5064063 | deletion | SNP array | SNP genotyping analysis | No | NA19452 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5066898 | deletion | SNP array | SNP genotyping analysis | No | NA18854 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5071040 | deletion | SNP array | SNP genotyping analysis | No | NA19185 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5071617 | deletion | SNP array | SNP genotyping analysis | No | NA19403 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5072375 | deletion | SNP array | SNP genotyping analysis | No | NA18510 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5073299 | deletion | SNP array | SNP genotyping analysis | No | NA18868 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5073414 | deletion | SNP array | SNP genotyping analysis | No | NA20297 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5074473 | deletion | SNP array | SNP genotyping analysis | No | NA19179 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5075248 | deletion | SNP array | SNP genotyping analysis | No | NA19235 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5075870 | deletion | SNP array | SNP genotyping analysis | No | NA19701 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5077233 | deletion | SNP array | SNP genotyping analysis | No | NA19664 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5078502 | deletion | SNP array | SNP genotyping analysis | No | NA19374 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5080397 | deletion | SNP array | SNP genotyping analysis | No | NA20343 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5081479 | deletion | SNP array | SNP genotyping analysis | No | NA19192 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5084373 | deletion | SNP array | SNP genotyping analysis | No | NA19180 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5087410 | deletion | SNP array | SNP genotyping analysis | No | NA19237 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5088579 | deletion | SNP array | SNP genotyping analysis | No | NA19153 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5089301 | deletion | SNP array | SNP genotyping analysis | No | NA19314 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5093833 | deletion | SNP array | SNP genotyping analysis | No | NA18935 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5095610 | deletion | SNP array | SNP genotyping analysis | No | NA19819 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5098414 | deletion | SNP array | SNP genotyping analysis | No | NA18914 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5100113 | deletion | SNP array | SNP genotyping analysis | No | NA19238 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5103254 | deletion | SNP array | SNP genotyping analysis | No | NA19176 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5104647 | deletion | SNP array | SNP genotyping analysis | No | NA18501 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5107159 | deletion | SNP array | SNP genotyping analysis | No | NA19213 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5107816 | deletion | SNP array | SNP genotyping analysis | No | NA21424 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5109789 | deletion | SNP array | SNP genotyping analysis | No | NA21613 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5110636 | deletion | SNP array | SNP genotyping analysis | No | NA18506 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5113994 | deletion | SNP array | SNP genotyping analysis | No | NA19127 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5114664 | deletion | SNP array | SNP genotyping analysis | No | NA19704 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5115860 | deletion | SNP array | SNP genotyping analysis | No | NA19108 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5117819 | deletion | SNP array | SNP genotyping analysis | No | NA18508 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5118117 | deletion | SNP array | SNP genotyping analysis | No | NA18497 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5120024 | deletion | SNP array | SNP genotyping analysis | No | NA19472 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5120988 | deletion | SNP array | SNP genotyping analysis | No | NA19313 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5124066 | deletion | SNP array | SNP genotyping analysis | No | NA18861 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5131012 | deletion | SNP array | SNP genotyping analysis | No | NA18499 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5131248 | deletion | SNP array | SNP genotyping analysis | No | NA21300 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5131639 | deletion | SNP array | SNP genotyping analysis | No | NA20297 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5132727 | deletion | SNP array | SNP genotyping analysis | No | NA19437 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5141223 | deletion | SNP array | SNP genotyping analysis | No | NA20294 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5141409 | deletion | SNP array | SNP genotyping analysis | No | NA19213 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5142692 | deletion | SNP array | SNP genotyping analysis | No | NA19118 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5142796 | deletion | SNP array | SNP genotyping analysis | No | NA19207 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5142988 | deletion | SNP array | SNP genotyping analysis | No | NA21596 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5143136 | deletion | SNP array | SNP genotyping analysis | No | NA21580 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5145720 | deletion | SNP array | SNP genotyping analysis | No | NA19207 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5145827 | deletion | SNP array | SNP genotyping analysis | No | NA19198 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5146221 | deletion | SNP array | SNP genotyping analysis | No | NA18863 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5146224 | deletion | SNP array | SNP genotyping analysis | No | NA21295 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5147348 | deletion | SNP array | SNP genotyping analysis | No | NA21317 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5151358 | deletion | SNP array | SNP genotyping analysis | No | NA18500 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5154659 | deletion | SNP array | SNP genotyping analysis | No | NA07045 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5155081 | deletion | SNP array | SNP genotyping analysis | No | NA19359 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5158917 | deletion | SNP array | SNP genotyping analysis | No | NA18913 | GRCh38.p12 | NC_000001.11 | 1 | 10309488 | 10317925 | Remapped | 1 | ||||||||
estd195 | essv5159857 | deletion | SNP array | SNP genotyping analysis | No | NA06997 | GRCh38.p12 | NC_000001.11 | 1 | 8122402 | 8129794 | Remapped | 1 | ||||||||
estd195 | essv5160550 | deletion | SNP array | SNP genotyping analysis | No | NA19713 | GRCh38.p12 | NC_000001.11 | 1 | 10483779 | 10484989 | Remapped | 1 | ||||||||
estd195 | essv5160849 | deletion | SNP array | SNP genotyping analysis | No | NA18870 | GRCh38.p12 | NC_000001.11 | 1 | 10483779 | 10484989 | Remapped | 1 |