esv2421413
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:27
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,397
- 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: 215 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 215 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421413 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| esv2421413 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| esv2421413 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5003388 | deletion | NA19173 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5007177 | deletion | NA21741 | SNP array | SNP genotyping analysis | 1 | 123 |
| essv5008023 | deletion | NA21493 | SNP array | SNP genotyping analysis | 1 | 142 |
| essv5010759 | deletion | NA20346 | SNP array | SNP genotyping analysis | 1 | 126 |
| essv5015799 | deletion | NA19625 | SNP array | SNP genotyping analysis | 1 | 175 |
| essv5021400 | deletion | NA21718 | SNP array | SNP genotyping analysis | 1 | 118 |
| essv5023258 | deletion | NA21367 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5029105 | deletion | NA19901 | SNP array | SNP genotyping analysis | 1 | 145 |
| essv5029845 | deletion | NA19172 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5029856 | deletion | NA18503 | SNP array | SNP genotyping analysis | 1 | 152 |
| essv5032902 | deletion | NA20276 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5034017 | deletion | NA21716 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5059319 | deletion | NA18505 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5064992 | deletion | NA19902 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5074753 | deletion | NA20277 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5086061 | deletion | NA20345 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5095916 | deletion | NA20302 | SNP array | SNP genotyping analysis | 1 | 149 |
| essv5098654 | deletion | NA19456 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5103178 | deletion | NA19383 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5105329 | deletion | NA20347 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5113112 | deletion | NA19041 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5113610 | deletion | NA20340 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5114900 | deletion | NA19181 | SNP array | SNP genotyping analysis | 1 | 155 |
| essv5115611 | deletion | NA18520 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5137861 | deletion | NA21359 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5143074 | deletion | NA19466 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5149010 | deletion | NA21361 | SNP array | SNP genotyping analysis | 1 | 126 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5003388 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5007177 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5008023 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5010759 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5015799 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5021400 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5023258 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5029105 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5029845 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5029856 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5032902 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5034017 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5059319 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5064992 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5074753 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5086061 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5095916 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5098654 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5103178 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5105329 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5113112 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5113610 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5114900 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5115611 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5137861 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5143074 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5149010 | Remapped | Perfect | NC_000004.12:g.(?_ 15758448)_(1576684 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,758,448 | 15,766,844 |
| essv5003388 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5007177 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5008023 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5010759 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5015799 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5021400 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5023258 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5029105 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5029845 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5029856 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5032902 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5034017 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5059319 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5064992 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5074753 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5086061 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5095916 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5098654 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5103178 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5105329 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5113112 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5113610 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5114900 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5115611 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5137861 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5143074 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5149010 | Remapped | Perfect | NC_000004.11:g.(?_ 15760071)_(1576846 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,760,071 | 15,768,467 |
| essv5003388 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5007177 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5008023 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5010759 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5015799 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5021400 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5023258 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5029105 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5029845 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5029856 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5032902 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5034017 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5059319 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5064992 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5074753 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5086061 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5095916 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5098654 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5103178 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5105329 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5113112 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5113610 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5114900 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5115611 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5137861 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5143074 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 | ||
| essv5149010 | Submitted genomic | NC_000004.10:g.(?_ 15369169)_(1537756 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,369,169 | 15,377,565 |