esv2422498
- 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:104,573
- 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: 467 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 468 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 19,177,989 | 19,282,561 |
| esv2422498 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 19,330,923 | 19,435,495 |
| esv2422498 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 19,222,190 | 19,326,762 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| essv5161313 | duplication | ND01944 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv5161313 | Remapped | Perfect | NC_000012.12:g.(?_ 19177989)_(1928256 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,177,989 | 19,282,561 |
| essv5161313 | Remapped | Perfect | NC_000012.11:g.(?_ 19330923)_(1943549 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 19,330,923 | 19,435,495 |
| essv5161313 | Submitted genomic | NC_000012.9:g.(?_1 9222190)_(19326762 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 19,222,190 | 19,326,762 |