esv34005
- 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:48,875
- 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: 205 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34005 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 7,953,185 | 8,002,059 |
| esv34005 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 8,093,316 | 8,142,190 |
| esv34005 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 8,010,767 | 8,059,641 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv6990707 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv6990707 | Remapped | Perfect | NC_000002.12:g.(?_ 7953185)_(8002059_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 7,953,185 | 8,002,059 |
| essv6990707 | Remapped | Perfect | NC_000002.11:g.(?_ 8093316)_(8142190_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 8,093,316 | 8,142,190 |
| essv6990707 | Submitted genomic | NC_000002.10:g.(?_ 8010767)_(8059641_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 8,010,767 | 8,059,641 |