esv34175
- 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:71,571
- 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: 296 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34175 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 31,657,755 | 31,729,325 |
| esv34175 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 31,659,377 | 31,730,947 |
| esv34175 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 31,268,475 | 31,340,045 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv6990594 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv6990594 | Remapped | Perfect | NC_000004.12:g.(?_ 31657755)_(3172932 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 31,657,755 | 31,729,325 |
| essv6990594 | Remapped | Perfect | NC_000004.11:g.(?_ 31659377)_(3173094 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 31,659,377 | 31,730,947 |
| essv6990594 | Submitted genomic | NC_000004.10:g.(?_ 31268475)_(3134004 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 31,268,475 | 31,340,045 |