esv3693127
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:71,778
- Publication(s):Palta et al. 2015
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: 344 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 344 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 16 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 |
---|---|---|---|---|---|---|---|---|---|
esv3693127 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 72,958,441 | 73,030,218 |
esv3693127 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 73,352,221 | 73,423,998 |
esv3693127 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 71,638,488 | 71,710,265 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv16507487 | Remapped | Perfect | NC_000012.12:g.(?_ 72958441)_(7303021 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 72,958,441 | 73,030,218 |
essv16507487 | Remapped | Perfect | NC_000012.11:g.(?_ 73352221)_(7342399 8_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 73,352,221 | 73,423,998 |
essv16507487 | Submitted genomic | NC_000012.10:g.(?_ 71638488)_(7171026 5_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 71,638,488 | 71,710,265 |