esv2754579
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:232,601
- Publication(s):Pinto et al. 2007
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: 1699 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1699 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 54 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2754579 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 66,288,736 | 66,521,336 |
| esv2754579 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 68,048,494 | 68,281,094 |
| esv2754579 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 67,718,500 | 67,951,100 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6983367 | copy number gain | BEC_644 | SNP array | SNP genotyping analysis | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6983367 | Remapped | Perfect | NC_000010.11:g.(?_ 66288736)_(6652133 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,288,736 | 66,521,336 |
| essv6983367 | Remapped | Perfect | NC_000010.10:g.(?_ 68048494)_(6828109 4_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 68,048,494 | 68,281,094 |
| essv6983367 | Submitted genomic | NC_000010.8:g.(?_6 7718500)_(67951100 _?)dup | NCBI35 (hg17) | NC_000010.8 | Chr10 | 67,718,500 | 67,951,100 |