esv2422308
- 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:40,383
- 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: 977 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 977 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422308 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 31,081,854 | 31,122,236 |
| esv2422308 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 31,234,788 | 31,275,170 |
| esv2422308 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 31,126,055 | 31,166,437 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161507 | duplication | ND01588 | SNP array | SNP genotyping analysis | essv5161392, essv5161355 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161507 | Remapped | Perfect | NC_000012.12:g.(?_ 31081854)_(3112223 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,081,854 | 31,122,236 |
| essv5161507 | Remapped | Perfect | NC_000012.11:g.(?_ 31234788)_(3127517 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 31,234,788 | 31,275,170 |
| essv5161507 | Submitted genomic | NC_000012.9:g.(?_3 1126055)_(31166437 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 31,126,055 | 31,166,437 |