esv2314060
- Organism: Homo sapiens
- Study:estd194 (Bentley 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:10,518
- Publication(s):Bentley 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: 169 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2314060 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 48,351,945 | 48,352,133 | 48,362,275 | 48,362,462 |
| esv2314060 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 48,391,542 | 48,391,730 | 48,401,872 | 48,402,059 |
| esv2314060 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 48,362,088 | 48,362,276 | 48,372,418 | 48,372,605 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv4920496 | Remapped | Perfect | NC_000007.14:g.(48 351945_48352133)_( 48362275_48362462) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,351,945 | 48,352,133 | 48,362,275 | 48,362,462 |
| essv4920496 | Remapped | Perfect | NC_000007.13:g.(48 391542_48391730)_( 48401872_48402059) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,391,542 | 48,391,730 | 48,401,872 | 48,402,059 |
| essv4920496 | Submitted genomic | NC_000007.12:g.(48 362088_48362276)_( 48372418_48372605) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,362,088 | 48,362,276 | 48,372,418 | 48,372,605 |