esv4323
- 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:7,586
- 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: 184 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 182 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 36 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv4323 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 47,181,607 | 47,189,192 |
| esv4323 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 45,258,973 | 45,266,558 |
| esv4323 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 42,613,972 | 42,621,557 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv26764 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv26764 | Remapped | Perfect | NC_000017.11:g.(47 181607_?)_(?_47189 192)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 47,181,607 | 47,189,192 |
| essv26764 | Remapped | Perfect | NC_000017.10:g.(45 258973_?)_(?_45266 558)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 45,258,973 | 45,266,558 |
| essv26764 | Submitted genomic | NC_000017.9:g.(426 13972_?)_(?_426215 57)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,613,972 | 42,621,557 |