esv2422358
- 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:75,002
- 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: 482 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 482 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422358 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 75,347,864 | 75,422,865 |
| esv2422358 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 75,381,762 | 75,456,763 |
| esv2422358 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000016.8 | Chr16 | 73,939,263 | 74,014,264 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| essv5161262 | duplication | ND00728 | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161262 | Remapped | Perfect | NC_000016.10:g.(?_ 75347864)_(7542286 5_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 75,347,864 | 75,422,865 |
| essv5161262 | Remapped | Perfect | NC_000016.9:g.(?_7 5381762)_(75456763 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 75,381,762 | 75,456,763 |
| essv5161262 | Submitted genomic | NC_000016.8:g.(?_7 3939263)_(74014264 _?)dup | NCBI35 (hg17) | NC_000016.8 | Chr16 | 73,939,263 | 74,014,264 |