esv3584569
- Organism: Homo sapiens
- Study:estd213 (Mokhtar et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:65,481
- 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: 689 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 688 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584569 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 2,827,824 | 2,893,304 |
| esv3584569 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 2,685,346 | 2,750,826 |
| esv3584569 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 2,672,753 | 2,738,233 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838713 | copy number gain | OA005 | SNP array | Probe signal intensity | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838713 | Remapped | Perfect | NC_000008.11:g.(?_ 2827824)_(2893304_ ?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 2,827,824 | 2,893,304 |
| essv9838713 | Remapped | Perfect | NC_000008.10:g.(?_ 2685346)_(2750826_ ?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 2,685,346 | 2,750,826 |
| essv9838713 | Submitted genomic | NC_000008.9:g.(?_2 672753)_(2738233_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,672,753 | 2,738,233 |