esv3584666
- Organism: Homo sapiens
- Study:estd213 (Mokhtar et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:46,854
- Publication(s):Mokhtar et al. 2014
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: 637 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 637 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584666 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 41,141,293 | 41,188,146 |
| esv3584666 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 41,610,496 | 41,657,349 |
| esv3584666 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 40,680,246 | 40,727,099 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838653 | copy number loss | OA072 | SNP array | Probe signal intensity | 32 |
| essv9838654 | copy number loss | OA013 | SNP array | Probe signal intensity | 31 |
| essv9838655 | copy number loss | OA012 | SNP array | Probe signal intensity | 29 |
| essv9838657 | copy number loss | KSM008 | SNP array | Probe signal intensity | 54 |
| essv9838658 | copy number loss | KSM006 | SNP array | Probe signal intensity | 44 |
| essv9838659 | copy number loss | KSF024 | SNP array | Probe signal intensity | 42 |
| essv9838660 | copy number loss | KSF008 | SNP array | Probe signal intensity | 54 |
| essv9838661 | copy number loss | 2RB | SNP array | Probe signal intensity | 55 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838653 | Remapped | Perfect | NC_000014.9:g.(?_4 1141293)_(41188146 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 41,141,293 | 41,188,146 |
| essv9838654 | Remapped | Perfect | NC_000014.9:g.(?_4 1141293)_(41188146 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 41,141,293 | 41,188,146 |
| essv9838655 | Remapped | Perfect | NC_000014.9:g.(?_4 1141293)_(41188146 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 41,141,293 | 41,188,146 |
| essv9838657 | Remapped | Perfect | NC_000014.9:g.(?_4 1141293)_(41188146 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 41,141,293 | 41,188,146 |
| essv9838658 | Remapped | Perfect | NC_000014.9:g.(?_4 1141293)_(41188146 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 41,141,293 | 41,188,146 |
| essv9838659 | Remapped | Perfect | NC_000014.9:g.(?_4 1141293)_(41188146 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 41,141,293 | 41,188,146 |
| essv9838660 | Remapped | Perfect | NC_000014.9:g.(?_4 1141293)_(41188146 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 41,141,293 | 41,188,146 |
| essv9838661 | Remapped | Perfect | NC_000014.9:g.(?_4 1141293)_(41188146 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 41,141,293 | 41,188,146 |
| essv9838653 | Remapped | Perfect | NC_000014.8:g.(?_4 1610496)_(41657349 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,610,496 | 41,657,349 |
| essv9838654 | Remapped | Perfect | NC_000014.8:g.(?_4 1610496)_(41657349 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,610,496 | 41,657,349 |
| essv9838655 | Remapped | Perfect | NC_000014.8:g.(?_4 1610496)_(41657349 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,610,496 | 41,657,349 |
| essv9838657 | Remapped | Perfect | NC_000014.8:g.(?_4 1610496)_(41657349 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,610,496 | 41,657,349 |
| essv9838658 | Remapped | Perfect | NC_000014.8:g.(?_4 1610496)_(41657349 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,610,496 | 41,657,349 |
| essv9838659 | Remapped | Perfect | NC_000014.8:g.(?_4 1610496)_(41657349 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,610,496 | 41,657,349 |
| essv9838660 | Remapped | Perfect | NC_000014.8:g.(?_4 1610496)_(41657349 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,610,496 | 41,657,349 |
| essv9838661 | Remapped | Perfect | NC_000014.8:g.(?_4 1610496)_(41657349 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,610,496 | 41,657,349 |
| essv9838653 | Submitted genomic | NC_000014.7:g.(?_4 0680246)_(40727099 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,680,246 | 40,727,099 | ||
| essv9838654 | Submitted genomic | NC_000014.7:g.(?_4 0680246)_(40727099 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,680,246 | 40,727,099 | ||
| essv9838655 | Submitted genomic | NC_000014.7:g.(?_4 0680246)_(40727099 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,680,246 | 40,727,099 | ||
| essv9838657 | Submitted genomic | NC_000014.7:g.(?_4 0680246)_(40727099 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,680,246 | 40,727,099 | ||
| essv9838658 | Submitted genomic | NC_000014.7:g.(?_4 0680246)_(40727099 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,680,246 | 40,727,099 | ||
| essv9838659 | Submitted genomic | NC_000014.7:g.(?_4 0680246)_(40727099 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,680,246 | 40,727,099 | ||
| essv9838660 | Submitted genomic | NC_000014.7:g.(?_4 0680246)_(40727099 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,680,246 | 40,727,099 | ||
| essv9838661 | Submitted genomic | NC_000014.7:g.(?_4 0680246)_(40727099 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,680,246 | 40,727,099 |