esv2761399
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,112
- Publication(s):Vogler 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: 219 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 219 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2761399 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 47,238,133 | 47,248,244 |
| esv2761399 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 47,707,336 | 47,717,447 |
| esv2761399 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 46,777,086 | 46,787,197 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6998602 | copy number loss | SW_1006 | SNP array | SNP genotyping analysis | 34 |
| essv6998603 | copy number loss | SW_0085 | SNP array | SNP genotyping analysis | 42 |
| essv6998604 | copy number loss | SW_0145 | SNP array | SNP genotyping analysis | 56 |
| essv6998605 | copy number loss | SW_0603 | SNP array | SNP genotyping analysis | 28 |
| essv6998606 | copy number loss | SW_1012 | SNP array | SNP genotyping analysis | 39 |
| essv6998607 | copy number loss | SW_1043 | SNP array | SNP genotyping analysis | 55 |
| essv6998608 | copy number loss | SW_1060 | SNP array | SNP genotyping analysis | 34 |
| essv6998609 | copy number loss | SW_1198 | SNP array | SNP genotyping analysis | 39 |
| essv6998610 | copy number loss | SW_1446 | SNP array | SNP genotyping analysis | 32 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6998602 | Remapped | Perfect | NC_000014.9:g.(?_4 7238133)_(47247080 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,238,133 | 47,247,080 |
| essv6998603 | Remapped | Perfect | NC_000014.9:g.(?_4 7238133)_(47248244 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,238,133 | 47,248,244 |
| essv6998604 | Remapped | Perfect | NC_000014.9:g.(?_4 7238133)_(47248244 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,238,133 | 47,248,244 |
| essv6998605 | Remapped | Perfect | NC_000014.9:g.(?_4 7238133)_(47248244 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,238,133 | 47,248,244 |
| essv6998606 | Remapped | Perfect | NC_000014.9:g.(?_4 7238133)_(47248244 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,238,133 | 47,248,244 |
| essv6998607 | Remapped | Perfect | NC_000014.9:g.(?_4 7238133)_(47248244 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,238,133 | 47,248,244 |
| essv6998608 | Remapped | Perfect | NC_000014.9:g.(?_4 7238133)_(47248244 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,238,133 | 47,248,244 |
| essv6998609 | Remapped | Perfect | NC_000014.9:g.(?_4 7238133)_(47248244 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,238,133 | 47,248,244 |
| essv6998610 | Remapped | Perfect | NC_000014.9:g.(?_4 7238133)_(47248244 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,238,133 | 47,248,244 |
| essv6998602 | Remapped | Perfect | NC_000014.8:g.(?_4 7707336)_(47716283 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 47,707,336 | 47,716,283 |
| essv6998603 | Remapped | Perfect | NC_000014.8:g.(?_4 7707336)_(47717447 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 47,707,336 | 47,717,447 |
| essv6998604 | Remapped | Perfect | NC_000014.8:g.(?_4 7707336)_(47717447 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 47,707,336 | 47,717,447 |
| essv6998605 | Remapped | Perfect | NC_000014.8:g.(?_4 7707336)_(47717447 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 47,707,336 | 47,717,447 |
| essv6998606 | Remapped | Perfect | NC_000014.8:g.(?_4 7707336)_(47717447 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 47,707,336 | 47,717,447 |
| essv6998607 | Remapped | Perfect | NC_000014.8:g.(?_4 7707336)_(47717447 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 47,707,336 | 47,717,447 |
| essv6998608 | Remapped | Perfect | NC_000014.8:g.(?_4 7707336)_(47717447 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 47,707,336 | 47,717,447 |
| essv6998609 | Remapped | Perfect | NC_000014.8:g.(?_4 7707336)_(47717447 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 47,707,336 | 47,717,447 |
| essv6998610 | Remapped | Perfect | NC_000014.8:g.(?_4 7707336)_(47717447 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 47,707,336 | 47,717,447 |
| essv6998602 | Submitted genomic | NC_000014.7:g.(?_4 6777086)_(46786033 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 46,777,086 | 46,786,033 | ||
| essv6998603 | Submitted genomic | NC_000014.7:g.(?_4 6777086)_(46787197 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 46,777,086 | 46,787,197 | ||
| essv6998604 | Submitted genomic | NC_000014.7:g.(?_4 6777086)_(46787197 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 46,777,086 | 46,787,197 | ||
| essv6998605 | Submitted genomic | NC_000014.7:g.(?_4 6777086)_(46787197 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 46,777,086 | 46,787,197 | ||
| essv6998606 | Submitted genomic | NC_000014.7:g.(?_4 6777086)_(46787197 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 46,777,086 | 46,787,197 | ||
| essv6998607 | Submitted genomic | NC_000014.7:g.(?_4 6777086)_(46787197 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 46,777,086 | 46,787,197 | ||
| essv6998608 | Submitted genomic | NC_000014.7:g.(?_4 6777086)_(46787197 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 46,777,086 | 46,787,197 | ||
| essv6998609 | Submitted genomic | NC_000014.7:g.(?_4 6777086)_(46787197 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 46,777,086 | 46,787,197 | ||
| essv6998610 | Submitted genomic | NC_000014.7:g.(?_4 6777086)_(46787197 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 46,777,086 | 46,787,197 |