esv34133
- Organism: Homo sapiens
- Study:estd49 (Gusev et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:100,635
- Publication(s):Gusev et al. 2008
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: 412 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 412 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34133 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 76,842,871 | 76,943,505 |
| esv34133 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 76,138,696 | 76,239,330 |
| esv34133 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 76,174,452 | 76,275,086 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv6990647 | copy number loss | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6990647 | Remapped | Perfect | NC_000005.10:g.(?_ 76842871)_(7694350 5_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 76,842,871 | 76,943,505 |
| essv6990647 | Remapped | Perfect | NC_000005.9:g.(?_7 6138696)_(76239330 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 76,138,696 | 76,239,330 |
| essv6990647 | Submitted genomic | NC_000005.8:g.(?_7 6174452)_(76275086 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 76,174,452 | 76,275,086 |