esv2086028
- 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:7
- 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: 92 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2086028 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 58,824,831 | 58,824,837 |
| esv2086028 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 58,592,304 | 58,592,310 |
| esv2086028 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 58,348,880 | 58,348,886 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5001893 | Remapped | Perfect | NC_000011.10:g.588 24831_58824837delT AAGAC | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 58,824,831 | 58,824,837 |
| essv5001893 | Remapped | Perfect | NC_000011.9:g.5859 2304_58592310delTA AGAC | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 58,592,304 | 58,592,310 |
| essv5001893 | Submitted genomic | NC_000011.8:g.5834 8880_58348886delTA AGAC | NCBI36 (hg18) | NC_000011.8 | Chr11 | 58,348,880 | 58,348,886 |