esv3584500
- 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:12,182
- 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: 147 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 40 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 | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3584500 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 35,073,883 | 35,086,064 |
| esv3584500 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 35,469,876 | 35,482,057 |
| esv3584500 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 33,799,876 | 33,812,057 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838255 | copy number gain | 8S | SNP array | Probe signal intensity | 39 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838255 | Remapped | Perfect | NC_000022.11:g.(?_ 35073883)_(3508606 4_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,073,883 | 35,086,064 |
| essv9838255 | Remapped | Perfect | NC_000022.10:g.(?_ 35469876)_(3548205 7_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,469,876 | 35,482,057 |
| essv9838255 | Submitted genomic | NC_000022.9:g.(?_3 3799876)_(33812057 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 33,799,876 | 33,812,057 |