esv3328
- Organism: Homo sapiens
- Study:estd3 (Wang et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,505
- Publication(s):Wang 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: 432 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 432 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3328 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 50,118,469 | 50,125,973 |
| esv3328 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 51,031,029 | 51,038,533 |
| esv3328 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 51,193,582 | 51,201,086 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv25769 | copy number loss | YH | Sequencing | Read depth and paired-end mapping | 2,682 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25769 | Remapped | Perfect | NC_000008.11:g.(50 118469_?)_(?_50125 973)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 50,118,469 | 50,125,973 |
| essv25769 | Remapped | Perfect | NC_000008.10:g.(51 031029_?)_(?_51038 533)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 51,031,029 | 51,038,533 |
| essv25769 | Submitted genomic | NC_000008.9:g.(511 93582_?)_(?_512010 86)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 51,193,582 | 51,201,086 |