esv2388810
- 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:10,012
- 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: 257 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 257 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2388810 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 15,330,116 | 15,330,255 | 15,340,008 | 15,340,127 |
| esv2388810 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 15,310,762 | 15,310,901 | 15,320,654 | 15,320,773 |
| esv2388810 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 15,258,762 | 15,258,901 | 15,268,654 | 15,268,773 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv4965169 | Remapped | Perfect | NC_000020.11:g.(15 330116_15330255)_( 15340008_15340127) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 15,330,116 | 15,330,255 | 15,340,008 | 15,340,127 |
| essv4965169 | Remapped | Perfect | NC_000020.10:g.(15 310762_15310901)_( 15320654_15320773) del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 15,310,762 | 15,310,901 | 15,320,654 | 15,320,773 |
| essv4965169 | Submitted genomic | NC_000020.9:g.(152 58762_15258901)_(1 5268654_15268773)d el | NCBI36 (hg18) | NC_000020.9 | Chr20 | 15,258,762 | 15,258,901 | 15,268,654 | 15,268,773 |