esv3790
- 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:14,426
- 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: 238 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3790 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 47,169,727 | 47,184,152 |
| esv3790 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 45,247,093 | 45,261,518 |
| esv3790 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 42,602,092 | 42,616,517 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv26231 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv26231 | Remapped | Perfect | NC_000017.11:g.(47 169727_?)_(?_47184 152)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 47,169,727 | 47,184,152 |
| essv26231 | Remapped | Perfect | NC_000017.10:g.(45 247093_?)_(?_45261 518)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 45,247,093 | 45,261,518 |
| essv26231 | Submitted genomic | NC_000017.9:g.(426 02092_?)_(?_426165 17)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,602,092 | 42,616,517 |