esv3584959
- 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:22,622
- 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: 302 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 302 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584959 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 77,746,919 | 77,769,540 |
| esv3584959 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 77,974,045 | 77,996,666 |
| esv3584959 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 77,827,553 | 77,850,174 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838425 | copy number gain | KSF024 | SNP array | Probe signal intensity | 42 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838425 | Remapped | Perfect | NC_000002.12:g.(?_ 77746919)_(7776954 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 77,746,919 | 77,769,540 |
| essv9838425 | Remapped | Perfect | NC_000002.11:g.(?_ 77974045)_(7799666 6_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 77,974,045 | 77,996,666 |
| essv9838425 | Submitted genomic | NC_000002.10:g.(?_ 77827553)_(7785017 4_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 77,827,553 | 77,850,174 |