esv2421690
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,598
- 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: 409 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 409 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421690 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| esv2421690 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| esv2421690 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5008789 | deletion | NA19431 | SNP array | SNP genotyping analysis | 1 | 157 |
| essv5016641 | deletion | NA19209 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5019974 | deletion | NA18500 | SNP array | SNP genotyping analysis | 1 | 149 |
| essv5026162 | deletion | NA18505 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5032313 | deletion | NA19701 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5041615 | deletion | NA19211 | SNP array | SNP genotyping analysis | 1 | 143 |
| essv5090911 | deletion | NA19310 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5092636 | deletion | NA19328 | SNP array | SNP genotyping analysis | 1 | 128 |
| essv5124163 | deletion | NA19137 | SNP array | SNP genotyping analysis | 1 | 166 |
| essv5125734 | deletion | NA19139 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5130649 | deletion | NA19375 | SNP array | SNP genotyping analysis | 1 | 155 |
| essv5137726 | deletion | NA18503 | SNP array | SNP genotyping analysis | 1 | 152 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5008789 | Remapped | Perfect | NC_000005.10:g.(?_ 101831588)_(101871 185_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| essv5016641 | Remapped | Perfect | NC_000005.10:g.(?_ 101831588)_(101871 185_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| essv5019974 | Remapped | Perfect | NC_000005.10:g.(?_ 101831588)_(101871 185_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| essv5026162 | Remapped | Perfect | NC_000005.10:g.(?_ 101831588)_(101871 185_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| essv5032313 | Remapped | Perfect | NC_000005.10:g.(?_ 101831588)_(101871 185_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| essv5041615 | Remapped | Perfect | NC_000005.10:g.(?_ 101831588)_(101871 185_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| essv5090911 | Remapped | Perfect | NC_000005.10:g.(?_ 101831588)_(101871 185_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| essv5092636 | Remapped | Perfect | NC_000005.10:g.(?_ 101831588)_(101871 185_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| essv5124163 | Remapped | Perfect | NC_000005.10:g.(?_ 101831588)_(101871 185_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| essv5125734 | Remapped | Perfect | NC_000005.10:g.(?_ 101831588)_(101871 185_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| essv5130649 | Remapped | Perfect | NC_000005.10:g.(?_ 101831588)_(101871 185_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| essv5137726 | Remapped | Perfect | NC_000005.10:g.(?_ 101831588)_(101871 185_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,831,588 | 101,871,185 |
| essv5008789 | Remapped | Perfect | NC_000005.9:g.(?_1 01167292)_(1012068 89_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| essv5016641 | Remapped | Perfect | NC_000005.9:g.(?_1 01167292)_(1012068 89_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| essv5019974 | Remapped | Perfect | NC_000005.9:g.(?_1 01167292)_(1012068 89_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| essv5026162 | Remapped | Perfect | NC_000005.9:g.(?_1 01167292)_(1012068 89_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| essv5032313 | Remapped | Perfect | NC_000005.9:g.(?_1 01167292)_(1012068 89_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| essv5041615 | Remapped | Perfect | NC_000005.9:g.(?_1 01167292)_(1012068 89_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| essv5090911 | Remapped | Perfect | NC_000005.9:g.(?_1 01167292)_(1012068 89_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| essv5092636 | Remapped | Perfect | NC_000005.9:g.(?_1 01167292)_(1012068 89_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| essv5124163 | Remapped | Perfect | NC_000005.9:g.(?_1 01167292)_(1012068 89_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| essv5125734 | Remapped | Perfect | NC_000005.9:g.(?_1 01167292)_(1012068 89_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| essv5130649 | Remapped | Perfect | NC_000005.9:g.(?_1 01167292)_(1012068 89_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| essv5137726 | Remapped | Perfect | NC_000005.9:g.(?_1 01167292)_(1012068 89_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,167,292 | 101,206,889 |
| essv5008789 | Submitted genomic | NC_000005.8:g.(?_1 01195191)_(1012347 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 | ||
| essv5016641 | Submitted genomic | NC_000005.8:g.(?_1 01195191)_(1012347 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 | ||
| essv5019974 | Submitted genomic | NC_000005.8:g.(?_1 01195191)_(1012347 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 | ||
| essv5026162 | Submitted genomic | NC_000005.8:g.(?_1 01195191)_(1012347 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 | ||
| essv5032313 | Submitted genomic | NC_000005.8:g.(?_1 01195191)_(1012347 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 | ||
| essv5041615 | Submitted genomic | NC_000005.8:g.(?_1 01195191)_(1012347 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 | ||
| essv5090911 | Submitted genomic | NC_000005.8:g.(?_1 01195191)_(1012347 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 | ||
| essv5092636 | Submitted genomic | NC_000005.8:g.(?_1 01195191)_(1012347 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 | ||
| essv5124163 | Submitted genomic | NC_000005.8:g.(?_1 01195191)_(1012347 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 | ||
| essv5125734 | Submitted genomic | NC_000005.8:g.(?_1 01195191)_(1012347 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 | ||
| essv5130649 | Submitted genomic | NC_000005.8:g.(?_1 01195191)_(1012347 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 | ||
| essv5137726 | Submitted genomic | NC_000005.8:g.(?_1 01195191)_(1012347 88_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 101,195,191 | 101,234,788 |