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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd208 | essv7099924 | duplication | Oligo aCGH | Probe signal intensity | No | NL1 | Seizure | Uncertain significance | GRCh38.p12 | NC_000009.12 | 9 | 136126730 | 136359675 | Remapped | 1.0807 | ||||||
estd208 | essv7099926 | duplication | SNP array | SNP genotyping analysis | No | D34 | Seizure | Uncertain significance | GRCh38.p12 | NC_000014.9 | 14 | 56873617 | 57298377 | Remapped | 1 | ||||||
estd208 | essv7099927 | duplication | Oligo aCGH | Probe signal intensity | No | NL10 | Seizure | Uncertain significance | GRCh38.p12 | NC_000002.12 | 2 | 28568285 | 28689424 | Remapped | 1.00001 | ||||||
estd208 | essv7099929 | deletion | Oligo aCGH | Probe signal intensity | No | NL13 | Seizure | Likely pathogenic | GRCh38.p12 | NC_000003.12 | 3 | 1561737 | 2571628 | Remapped | 1 | ||||||
estd208 | essv7099931 | deletion | Oligo aCGH | Probe signal intensity | No | NL14 | Seizure | Pathogenic | GRCh38.p12 | NC_000005.10 | 5 | 58598122 | 59259665 | Remapped | 1 | ||||||
estd208 | essv7099932 | deletion | SNP array | SNP genotyping analysis | No | NL15 | Seizure | Uncertain significance | GRCh38.p12 | NC_000004.12 | 4 | 114042321 | 114480672 | Remapped | 1 | ||||||
estd208 | essv7099935 | duplication | Oligo aCGH | Probe signal intensity | No | NL18 | Seizure | Uncertain significance | GRCh38.p12 | NC_000004.12 | 4 | 156484740 | 157349996 | Remapped | 1 | ||||||
estd208 | essv7099936 | deletion | Oligo aCGH | Probe signal intensity | No | NL2 | Seizure | Likely pathogenic | GRCh38.p12 | NC_000014.9 | 14 | 20511707 | 22614561 | Remapped | 0.99965 | ||||||
estd208 | essv7099938 | duplication | Oligo aCGH | Probe signal intensity | No | NL20 | Seizure | Likely pathogenic | GRCh38.p12 | NC_000004.12 | 4 | 180774102 | 182609781 | Remapped | 1 | ||||||
estd208 | essv7099939 | duplication | Oligo aCGH | Probe signal intensity | No | NL21 | Seizure | Uncertain significance | GRCh38.p12 | NC_000011.10 | 11 | 15120701 | 15422548 | Remapped | 1 | ||||||
estd208 | essv7099940 | duplication | Oligo aCGH | Probe signal intensity | No | NL22 | Seizure | Uncertain significance | GRCh38.p12 | NC_000011.10 | 11 | 15120701 | 15422548 | Remapped | 1 | ||||||
estd208 | essv7099941 | duplication | Oligo aCGH | Probe signal intensity | No | NL23 | Seizure | Uncertain significance | GRCh38.p12 | NC_000002.12 | 2 | 135504228 | 135636886 | Remapped | 1 | ||||||
estd208 | essv7099942 | deletion | SNP array | SNP genotyping analysis | No | NL24 | Seizure | Uncertain significance | GRCh38.p12 | NC_000003.12 | 3 | 99260957 | 99399555 | Remapped | 1 | ||||||
estd208 | essv7099943 | deletion | Oligo aCGH | Probe signal intensity | No | NL25 | Seizure | Uncertain significance | GRCh38.p12 | NC_000002.12 | 2 | 50856272 | 51199033 | Remapped | 1 | ||||||
estd208 | essv7099944 | duplication | Oligo aCGH | Probe signal intensity | No | NL26 | Seizure | Uncertain significance | GRCh38.p12 | NC_000005.10 | 5 | 43785446 | 44341529 | Remapped | 1 | ||||||
estd208 | essv7099945 | duplication | Oligo aCGH | Probe signal intensity | No | NL37 | Seizure | Uncertain significance | GRCh38.p12 | NC_000005.10 | 5 | 142612227 | 143070391 | Remapped | 0.99998 | ||||||
estd208 | essv7099947 | deletion | Oligo aCGH | Probe signal intensity | No | NL3 | Seizure | Pathogenic | GRCh38.p12 | NC_000015.10 | 15 | 28818879 | 30073661 | Remapped | 0.97263 | ||||||
estd208 | essv7099950 | duplication | SNP array | SNP genotyping analysis | No | NL29 | Seizure | Uncertain significance | GRCh38.p12 | NC_000012.12 | 12 | 131487495 | 131607359 | Remapped | 1 | ||||||
estd208 | essv7099952 | deletion | Oligo aCGH | Probe signal intensity | No | NL32 | Seizure | Pathogenic | GRCh38.p12 | NC_000002.12 | 2 | 154790212 | 158488241 | Remapped | 1 | ||||||
estd208 | essv7099957 | deletion | Oligo aCGH | Probe signal intensity | No | NL37 | Seizure | Pathogenic | GRCh38.p12 | NC_000006.12 | 6 | 2733136 | 3153899 | Remapped | 1 | ||||||
estd208 | essv7099958 | deletion | Oligo aCGH | Probe signal intensity | No | NL7 | Seizure | Pathogenic | GRCh38.p12 | NC_000015.10 | 15 | 30891444 | 32218802 | Remapped | 1 | ||||||
estd208 | essv7099963 | duplication | Oligo aCGH | Probe signal intensity | No | NL40 | Seizure | Likely pathogenic | GRCh38.p12 | NC_000003.12 | 3 | 59237904 | 61741180 | Remapped | 1.00002 | ||||||
estd208 | essv7099966 | duplication | Oligo aCGH | Probe signal intensity | No | NL42 | Seizure | Uncertain significance | GRCh38.p12 | NC_000007.14 | 7 | 55142206 | 55289773 | Remapped | 1 | ||||||
estd208 | essv7099967 | duplication | Oligo aCGH | Probe signal intensity | No | NL43 | Seizure | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | 145635306 | 146033762 | Remapped | 0.99988 | ||||||
estd208 | essv7099970 | duplication | Oligo aCGH | Probe signal intensity | No | NL45 | Seizure | Uncertain significance | GRCh38.p12 | NC_000002.12 | 2 | 171925320 | 172087798 | Remapped | 0.95186 | ||||||
estd208 | essv7099971 | duplication | Oligo aCGH | Probe signal intensity | No | NL46 | Seizure | Uncertain significance | GRCh38.p12 | NC_000004.12 | 4 | 89164305 | 90001281 | Remapped | 1 | ||||||
estd208 | essv7099972 | duplication | Oligo aCGH | Probe signal intensity | No | NL25 | Seizure | Uncertain significance | GRCh38.p12 | NC_000004.12 | 4 | 93220504 | 93528955 | Remapped | 1 | ||||||
estd208 | essv7099973 | deletion | Oligo aCGH | Probe signal intensity | No | NL47 | Seizure | Uncertain significance | GRCh38.p12 | NC_000008.11 | 8 | 81380277 | 81499385 | Remapped | 1 | ||||||
estd208 | essv7099974 | deletion | Oligo aCGH | Probe signal intensity | No | NL49 | Seizure | Uncertain significance | GRCh38.p12 | NC_000005.10 | 5 | 116050964 | 116154849 | Remapped | 1 | ||||||
estd208 | essv7099976 | duplication | Oligo aCGH | Probe signal intensity | No | NL27 | Seizure | Uncertain significance | GRCh38.p12 | NC_000011.10 | 11 | 56714479 | 56882648 | Remapped | 1 | ||||||
estd208 | essv7099977 | duplication | Oligo aCGH | Probe signal intensity | No | NL51 | Seizure | Likely pathogenic | GRCh38.p12 | NC_000005.10 | 5 | 13793518 | 14172189 | Remapped | 1 | ||||||
estd208 | essv7099979 | deletion | Oligo aCGH | Probe signal intensity | No | NL52 | Seizure | Uncertain significance | GRCh38.p12 | NC_000008.11 | 8 | 142508302 | 142611257 | Remapped | 1 | ||||||
estd208 | essv7099982 | duplication | Oligo aCGH | Probe signal intensity | No | NL53 | Seizure | Uncertain significance | GRCh38.p12 | NC_000001.11 | 1 | 153640917 | 153752531 | Remapped | 1 | ||||||
estd208 | essv7099983 | duplication | Oligo aCGH | Probe signal intensity | No | NL54 | Seizure | Uncertain significance | GRCh38.p12 | NC_000007.14 | 7 | 158732788 | 158972617 | Remapped | 1 | ||||||
estd208 | essv7099984 | duplication | Oligo aCGH | Probe signal intensity | No | NL58 | Seizure | Likely pathogenic | GRCh38.p12 | NC_000005.10 | 5 | 177064720 | 177456417 | Remapped | 1 | ||||||
estd208 | essv7099986 | deletion | Oligo aCGH | Probe signal intensity | No | NL59 | Seizure | Pathogenic | GRCh38.p12 | NC_000015.10 | 15 | 20370193 | 22308242 | Remapped | 0.96113 | ||||||
estd208 | essv7099987 | duplication | SNP array | SNP genotyping analysis | No | NL60 | Seizure | Uncertain significance | GRCh38.p12 | NC_000002.12 | 2 | 187818872 | 188212126 | Remapped | 1 | ||||||
estd208 | essv7099988 | deletion | Oligo aCGH | Probe signal intensity | No | NL62 | Seizure | Pathogenic | GRCh38.p12 | NC_000015.10 | 15 | 22572658 | 23174746 | Remapped | 0.99983 | ||||||
estd208 | essv7099990 | duplication | Oligo aCGH | Probe signal intensity | No | NL63 | Seizure | Uncertain significance | GRCh38.p12 | NC_000004.12 | 4 | 128864328 | 128984101 | Remapped | 1 | ||||||
estd208 | essv7099993 | duplication | Oligo aCGH | Probe signal intensity | No | NL66 | Seizure | Uncertain significance | GRCh38.p12 | NC_000009.12 | 9 | 1998911 | 2119702 | Remapped | 1 | ||||||
estd208 | essv7099996 | deletion | Oligo aCGH | Probe signal intensity | No | NL70 | Seizure | Uncertain significance | GRCh38.p12 | NC_000004.12 | 4 | 72355 | 688150 | Remapped | 1.01001 | ||||||
estd208 | essv7099998 | deletion | Oligo aCGH | Probe signal intensity | No | NL74 | Seizure | Pathogenic | GRCh38.p12 | NC_000013.11 | 13 | 35464112 | 35567087 | Remapped | 1 | ||||||
estd208 | essv7099999 | duplication | SNP array | SNP genotyping analysis | No | K1 | Seizure | Uncertain significance | GRCh38.p12 | NC_000001.11 | 1 | 45736689 | 45881695 | Remapped | 1 | ||||||
estd208 | essv7100000 | deletion | SNP array | SNP genotyping analysis | No | K12 | Seizure | Uncertain significance | GRCh38.p12 | NC_000014.9 | 14 | 31169904 | 31530828 | Remapped | 1 | ||||||
estd208 | essv7100001 | duplication | SNP array | SNP genotyping analysis | No | K13 | Seizure | Uncertain significance | GRCh38.p12 | NC_000012.12 | 12 | 101802589 | 101904983 | Remapped | 1 | ||||||
estd208 | essv7100003 | deletion | SNP array | SNP genotyping analysis | No | K22 | Seizure | Uncertain significance | GRCh38.p12 | NC_000002.12 | 2 | 182436032 | 182680651 | Remapped | 1 | ||||||
estd208 | essv7100004 | deletion | SNP array | SNP genotyping analysis | No | K29 | Seizure | Uncertain significance | GRCh38.p12 | NC_000001.11 | 1 | 78845075 | 79089908 | Remapped | 1 | ||||||
estd208 | essv7100005 | duplication | SNP array | SNP genotyping analysis | No | K31 | Seizure | Uncertain significance | GRCh38.p12 | NC_000016.10 | 16 | 8738484 | 8865498 | Remapped | 1 | ||||||
estd208 | essv7100007 | deletion | SNP array | SNP genotyping analysis | No | D10 | Seizure | Pathogenic | GRCh38.p12 | NC_000006.12 | 6 | 157782406 | 170673434 | Remapped | 1.01496 | ||||||
estd208 | essv7100009 | deletion | SNP array | SNP genotyping analysis | No | D34 | Seizure | Pathogenic | GRCh38.p12 | NC_000003.12 | 3 | 18324 | 10722337 | Remapped | 0.99674 | ||||||
estd208 | essv7100011 | duplication | Oligo aCGH | Probe signal intensity | No | NL9 | Seizure | Uncertain significance | GRCh38.p12 | NC_000014.9 | 14 | 52725614 | 52842671 | Remapped | 1 | ||||||
estd208 | esv2830357 | copy number variation | No | GRCh38.p12 | NC_000009.12 | 9 | 136126730 | 136359675 | Remapped | 1.0807 | |||||||||||
estd208 | esv2830359 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 28568285 | 28689424 | Remapped | 1.00001 | |||||||||||
estd208 | esv2830361 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 1561737 | 2571628 | Remapped | 1 | |||||||||||
estd208 | esv2830363 | copy number variation | No | GRCh38.p12 | NC_000005.10 | 5 | 58598122 | 59259665 | Remapped | 1 | |||||||||||
estd208 | esv2830364 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 114042321 | 114480672 | Remapped | 1 | |||||||||||
estd208 | esv2830367 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 156484740 | 157349996 | Remapped | 1 | |||||||||||
estd208 | esv2830368 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 180774102 | 182609781 | Remapped | 1 | |||||||||||
estd208 | esv2830369 | copy number variation | No | GRCh38.p12 | NC_000014.9 | 14 | 20511707 | 22614561 | Remapped | 0.99965 | |||||||||||
estd208 | esv2830370 | copy number variation | No | GRCh38.p12 | NC_000011.10 | 11 | 15120701 | 15422548 | Remapped | 1 | |||||||||||
estd208 | esv2830371 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 135504228 | 135636886 | Remapped | 1 | |||||||||||
estd208 | esv2830372 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 99260957 | 99399555 | Remapped | 1 | |||||||||||
estd208 | esv2830373 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 50856272 | 51199033 | Remapped | 1 | |||||||||||
estd208 | esv2830374 | copy number variation | No | GRCh38.p12 | NC_000005.10 | 5 | 43785446 | 44341529 | Remapped | 1 | |||||||||||
estd208 | esv2830375 | copy number variation | No | GRCh38.p12 | NC_000005.10 | 5 | 142612227 | 143070391 | Remapped | 0.99998 | |||||||||||
estd208 | esv2830379 | copy number variation | No | GRCh38.p12 | NC_000012.12 | 12 | 131487495 | 131607359 | Remapped | 1 | |||||||||||
estd208 | esv2830380 | copy number variation | No | GRCh38.p12 | NC_000015.10 | 15 | 28818879 | 30073661 | Remapped | 0.97263 | |||||||||||
estd208 | esv2830382 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 154790212 | 158488241 | Remapped | 1 | |||||||||||
estd208 | esv2830387 | copy number variation | No | GRCh38.p12 | NC_000006.12 | 6 | 2733136 | 3153899 | Remapped | 1 | |||||||||||
estd208 | esv2830391 | copy number variation | No | GRCh38.p12 | NC_000015.10 | 15 | 30891444 | 32218802 | Remapped | 1 | |||||||||||
estd208 | esv2830393 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 59237904 | 61741180 | Remapped | 1.00002 | |||||||||||
estd208 | esv2830396 | copy number variation | No | GRCh38.p12 | NC_000007.14 | 7 | 55142206 | 55289773 | Remapped | 1 | |||||||||||
estd208 | esv2830397 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 145635306 | 146033762 | Remapped | 0.99988 | |||||||||||
estd208 | esv2830399 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 171925320 | 172087798 | Remapped | 0.95186 | |||||||||||
estd208 | esv2830400 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 89164305 | 90001281 | Remapped | 1 | |||||||||||
estd208 | esv2830401 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 93220504 | 93528955 | Remapped | 1 | |||||||||||
estd208 | esv2830403 | copy number variation | No | GRCh38.p12 | NC_000008.11 | 8 | 81380277 | 81499385 | Remapped | 1 | |||||||||||
estd208 | esv2830404 | copy number variation | No | GRCh38.p12 | NC_000005.10 | 5 | 116050964 | 116154849 | Remapped | 1 | |||||||||||
estd208 | esv2830406 | copy number variation | No | GRCh38.p12 | NC_000011.10 | 11 | 56714479 | 56882648 | Remapped | 1 | |||||||||||
estd208 | esv2830407 | copy number variation | No | GRCh38.p12 | NC_000005.10 | 5 | 13793518 | 14172189 | Remapped | 1 | |||||||||||
estd208 | esv2830409 | copy number variation | No | GRCh38.p12 | NC_000008.11 | 8 | 142508302 | 142611257 | Remapped | 1 | |||||||||||
estd208 | esv2830411 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 153640917 | 153752531 | Remapped | 1 | |||||||||||
estd208 | esv2830412 | copy number variation | No | GRCh38.p12 | NC_000007.14 | 7 | 158732788 | 158972617 | Remapped | 1 | |||||||||||
estd208 | esv2830414 | copy number variation | No | GRCh38.p12 | NC_000005.10 | 5 | 177064720 | 177456417 | Remapped | 1 | |||||||||||
estd208 | esv2830416 | copy number variation | No | GRCh38.p12 | NC_000015.10 | 15 | 20370193 | 22308242 | Remapped | 0.96113 | |||||||||||
estd208 | esv2830417 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 187818872 | 188212126 | Remapped | 1 | |||||||||||
estd208 | esv2830419 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 128864328 | 128984101 | Remapped | 1 | |||||||||||
estd208 | esv2830420 | copy number variation | No | GRCh38.p12 | NC_000009.12 | 9 | 1998911 | 2119702 | Remapped | 1 | |||||||||||
estd208 | esv2830422 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 72355 | 688150 | Remapped | 1.01001 | |||||||||||
estd208 | esv2830425 | copy number variation | No | GRCh38.p12 | NC_000013.11 | 13 | 35464112 | 35567087 | Remapped | 1 | |||||||||||
estd208 | esv2830426 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 45736689 | 45881695 | Remapped | 1 | |||||||||||
estd208 | esv2830427 | copy number variation | No | GRCh38.p12 | NC_000014.9 | 14 | 31169904 | 31530828 | Remapped | 1 | |||||||||||
estd208 | esv2830428 | copy number variation | No | GRCh38.p12 | NC_000012.12 | 12 | 101802589 | 101904983 | Remapped | 1 | |||||||||||
estd208 | esv2830429 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 182436032 | 182680651 | Remapped | 1 | |||||||||||
estd208 | esv2830430 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 78845075 | 79089908 | Remapped | 1 | |||||||||||
estd208 | esv2830431 | copy number variation | No | GRCh38.p12 | NC_000016.10 | 16 | 8738484 | 8865498 | Remapped | 1 | |||||||||||
estd208 | esv2830432 | copy number variation | No | GRCh38.p12 | NC_000006.12 | 6 | 157782406 | 170673434 | Remapped | 1.01496 | |||||||||||
estd208 | esv2830434 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 18324 | 10722337 | Remapped | 0.99674 | |||||||||||
estd208 | esv2830435 | copy number variation | No | GRCh38.p12 | NC_000014.9 | 14 | 52725614 | 52842671 | Remapped | 1 | |||||||||||
estd208 | esv2830437 | copy number variation | No | GRCh38.p12 | NC_000014.9 | 14 | 56873617 | 57298377 | Remapped | 1 |