esv2421333
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:29
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,381
- Publication(s):International HapMap 3 Consortium et al. 2010
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 196 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 63 SVs from 18 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
esv2421333 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
esv2421333 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
esv2421333 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv5002042 | deletion | NA19064 | SNP array | SNP genotyping analysis | 1 | 129 |
essv5004894 | deletion | NA19784 | SNP array | SNP genotyping analysis | 1 | 141 |
essv5006633 | deletion | NA19776 | SNP array | SNP genotyping analysis | 1 | 133 |
essv5007951 | deletion | NA19625 | SNP array | SNP genotyping analysis | 1 | 175 |
essv5014065 | deletion | NA18757 | SNP array | SNP genotyping analysis | 1 | 141 |
essv5016211 | deletion | NA18117 | SNP array | SNP genotyping analysis | 1 | 124 |
essv5017407 | deletion | NA18643 | SNP array | SNP genotyping analysis | 1 | 145 |
essv5018583 | deletion | NA18552 | SNP array | SNP genotyping analysis | 1 | 143 |
essv5021224 | deletion | NA19086 | SNP array | SNP genotyping analysis | 1 | 128 |
essv5026503 | deletion | NA18544 | SNP array | SNP genotyping analysis | 1 | 131 |
essv5026566 | deletion | NA19720 | SNP array | SNP genotyping analysis | 1 | 125 |
essv5039785 | deletion | NA19772 | SNP array | SNP genotyping analysis | 1 | 131 |
essv5040030 | deletion | NA19770 | SNP array | SNP genotyping analysis | 1 | 126 |
essv5047550 | deletion | NA18619 | SNP array | SNP genotyping analysis | 1 | 131 |
essv5068493 | deletion | NA19783 | SNP array | SNP genotyping analysis | 1 | 133 |
essv5069357 | deletion | NA19782 | SNP array | SNP genotyping analysis | 1 | 130 |
essv5070050 | deletion | NA19055 | SNP array | SNP genotyping analysis | 1 | 129 |
essv5083701 | deletion | NA20887 | SNP array | SNP genotyping analysis | 1 | 139 |
essv5087154 | deletion | NA18965 | SNP array | SNP genotyping analysis | 1 | 129 |
essv5089571 | deletion | NA18529 | SNP array | SNP genotyping analysis | 1 | 124 |
essv5109511 | deletion | NA18118 | SNP array | SNP genotyping analysis | 1 | 133 |
essv5111734 | deletion | NA18120 | SNP array | SNP genotyping analysis | 1 | 121 |
essv5112220 | deletion | NA18133 | SNP array | SNP genotyping analysis | 1 | 118 |
essv5113209 | deletion | NA19778 | SNP array | SNP genotyping analysis | 1 | 125 |
essv5128180 | deletion | NA17977 | SNP array | SNP genotyping analysis | 1 | 123 |
essv5132332 | deletion | NA19716 | SNP array | SNP genotyping analysis | 1 | 133 |
essv5142474 | deletion | NA17998 | SNP array | SNP genotyping analysis | 1 | 120 |
essv5142530 | deletion | NA18969 | SNP array | SNP genotyping analysis | 1 | 139 |
essv5152488 | deletion | NA19721 | SNP array | SNP genotyping analysis | 1 | 122 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv5002042 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5004894 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5006633 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5007951 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5014065 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5016211 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5017407 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5018583 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5021224 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5026503 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5026566 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5039785 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5040030 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5047550 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5068493 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5069357 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5070050 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5083701 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5087154 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5089571 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5109511 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5111734 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5112220 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5113209 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5128180 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5132332 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5142474 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5142530 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5152488 | Remapped | Perfect | NC_000016.10:g.(?_ 60048702)_(6006308 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,048,702 | 60,063,082 |
essv5002042 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5004894 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5006633 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5007951 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5014065 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5016211 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5017407 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5018583 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5021224 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5026503 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5026566 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5039785 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5040030 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5047550 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5068493 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5069357 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5070050 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5083701 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5087154 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5089571 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5109511 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5111734 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5112220 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5113209 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5128180 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5132332 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5142474 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5142530 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5152488 | Remapped | Perfect | NC_000016.9:g.(?_6 0082606)_(60096986 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 60,082,606 | 60,096,986 |
essv5002042 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5004894 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5006633 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5007951 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5014065 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5016211 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5017407 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5018583 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5021224 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5026503 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5026566 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5039785 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5040030 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5047550 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5068493 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5069357 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5070050 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5083701 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5087154 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5089571 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5109511 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5111734 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5112220 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5113209 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5128180 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5132332 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5142474 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5142530 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 | ||
essv5152488 | Submitted genomic | NC_000016.8:g.(?_5 8640107)_(58654487 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 58,640,107 | 58,654,487 |