esv3584822
- 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:36,283
- 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: 291 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 291 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584822 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 168,802,571 | 168,838,853 |
| esv3584822 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 169,723,722 | 169,760,004 |
| esv3584822 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 169,960,297 | 169,996,579 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838586 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv9838586 | Remapped | Perfect | NC_000004.12:g.(?_ 168802571)_(168838 853_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 168,802,571 | 168,838,853 |
| essv9838586 | Remapped | Perfect | NC_000004.11:g.(?_ 169723722)_(169760 004_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 169,723,722 | 169,760,004 |
| essv9838586 | Submitted genomic | NC_000004.10:g.(?_ 169960297)_(169996 579_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 169,960,297 | 169,996,579 |