esv5167
- 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:8,638
- 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: 192 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv5167 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 7,069,362 | 7,077,999 |
| esv5167 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 6,972,681 | 6,981,318 |
| esv5167 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 6,913,405 | 6,922,042 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv27608 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv27608 | Remapped | Perfect | NC_000017.11:g.(70 69362_?)_(?_707799 9)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 7,069,362 | 7,077,999 |
| essv27608 | Remapped | Perfect | NC_000017.10:g.(69 72681_?)_(?_698131 8)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 6,972,681 | 6,981,318 |
| essv27608 | Submitted genomic | NC_000017.9:g.(691 3405_?)_(?_6922042 )del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 6,913,405 | 6,922,042 |