esv1808309
- Organism: Homo sapiens
- Study:estd188 (Pinto et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:414,968
- Publication(s):Pinto et al. 2011
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: 1010 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1010 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 298 SVs from 19 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 |
---|---|---|---|---|---|---|---|---|---|
esv1808309 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 114,858,281 | 115,273,248 |
esv1808309 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 115,296,086 | 115,711,053 |
esv1808309 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 113,780,469 | 114,195,436 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv4375464 | Remapped | Perfect | NC_000012.12:g.(?_ 114858281)_(115273 248_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 114,858,281 | 115,273,248 |
essv4375464 | Remapped | Perfect | NC_000012.11:g.(?_ 115296086)_(115711 053_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 115,296,086 | 115,711,053 |
essv4375464 | Submitted genomic | NC_000012.10:g.(?_ 113780469)_(114195 436_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 113,780,469 | 114,195,436 |