esv34152
- 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:54,864
- 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: 319 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 319 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34152 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 54,492,642 | 54,547,505 |
| esv34152 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 53,788,472 | 53,843,335 |
| esv34152 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 53,824,229 | 53,879,092 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv6990624 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv6990624 | Remapped | Perfect | NC_000005.10:g.(?_ 54492642)_(5454750 5_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 54,492,642 | 54,547,505 |
| essv6990624 | Remapped | Perfect | NC_000005.9:g.(?_5 3788472)_(53843335 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 53,788,472 | 53,843,335 |
| essv6990624 | Submitted genomic | NC_000005.8:g.(?_5 3824229)_(53879092 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 53,824,229 | 53,879,092 |