esv2422512
- Organism: Homo sapiens
- Study:estd196 (Simon-Sanchez et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:74,605
- Publication(s):Simon-Sanchez et al. 2006
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: 1014 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1014 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 54 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2422512 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 4,195,116 | 4,269,720 |
| esv2422512 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 4,052,638 | 4,127,242 |
| esv2422512 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 4,040,046 | 4,114,650 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161403 | Remapped | Perfect | NC_000008.11:g.(?_ 4195116)_(4269720_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,195,116 | 4,269,720 |
| essv5161403 | Remapped | Perfect | NC_000008.10:g.(?_ 4052638)_(4127242_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 4,052,638 | 4,127,242 |
| essv5161403 | Submitted genomic | NC_000008.9:g.(?_4 040046)_(4114650_? )del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 4,040,046 | 4,114,650 |