esv2422401
- 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:238,531
- 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: 1114 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1114 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 80 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2422401 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 63,384,747 | 63,623,277 |
| esv2422401 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 63,778,527 | 64,017,057 |
| esv2422401 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 62,064,794 | 62,303,324 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161331 | Remapped | Perfect | NC_000012.12:g.(?_ 63384747)_(6362327 7_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,384,747 | 63,623,277 |
| essv5161331 | Remapped | Perfect | NC_000012.11:g.(?_ 63778527)_(6401705 7_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,778,527 | 64,017,057 |
| essv5161331 | Submitted genomic | NC_000012.9:g.(?_6 2064794)_(62303324 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 62,064,794 | 62,303,324 |