esv34159
- 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:149,632
- 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: 509 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 509 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 179 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34159 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 24,011,154 | 24,160,785 |
| esv34159 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 24,164,088 | 24,313,719 |
| esv34159 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 24,055,355 | 24,204,986 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv6990563 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv6990563 | Remapped | Perfect | NC_000012.12:g.(?_ 24011154)_(2416078 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 24,011,154 | 24,160,785 |
| essv6990563 | Remapped | Perfect | NC_000012.11:g.(?_ 24164088)_(2431371 9_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 24,164,088 | 24,313,719 |
| essv6990563 | Submitted genomic | NC_000012.10:g.(?_ 24055355)_(2420498 6_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 24,055,355 | 24,204,986 |