esv2754268
- 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:346,856
- 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: 1263 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1263 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 73 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2754268 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 121,062,503 | 121,409,358 |
| esv2754268 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 120,398,198 | 120,745,053 |
| esv2754268 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 120,426,097 | 120,772,952 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6983171 | copy number loss | BEC_549 | SNP array | SNP genotyping analysis | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6983171 | Remapped | Perfect | NC_000005.10:g.(?_ 121062503)_(121409 358_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 121,062,503 | 121,409,358 |
| essv6983171 | Remapped | Perfect | NC_000005.9:g.(?_1 20398198)_(1207450 53_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 120,398,198 | 120,745,053 |
| essv6983171 | Submitted genomic | NC_000005.8:g.(?_1 20426097)_(1207729 52_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 120,426,097 | 120,772,952 |