esv4607
- 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:14,948
- 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: 439 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 439 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv4607 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 15,140,500 | 15,155,447 |
| esv4607 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 15,043,817 | 15,058,764 |
| esv4607 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 14,984,542 | 14,999,489 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv27048 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv27048 | Remapped | Perfect | NC_000017.11:g.(15 140500_?)_(?_15155 447)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,500 | 15,155,447 |
| essv27048 | Remapped | Perfect | NC_000017.10:g.(15 043817_?)_(?_15058 764)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,817 | 15,058,764 |
| essv27048 | Submitted genomic | NC_000017.9:g.(149 84542_?)_(?_149994 89)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,542 | 14,999,489 |