esv3891062
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:95,516
- Publication(s):Suktitipat et al. 2014
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: 350 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 350 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 18 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3891062 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 14,077,492 | 14,107,205 | 14,149,743 | 14,173,007 |
esv3891062 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 14,117,117 | 14,146,830 | 14,189,368 | 14,212,632 |
esv3891062 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 14,083,642 | 14,113,355 | 14,155,893 | 14,179,157 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
essv25788940 | copy number gain | SNP array | Probe signal intensity | 3 |
essv25781506 | copy number loss | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv25788940 | Remapped | Perfect | NC_000007.14:g.(?_ 14077492)_(1414974 3_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 14,077,492 | 14,149,743 |
essv25781506 | Remapped | Perfect | NC_000007.14:g.(?_ 14107205)_(1417300 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 14,107,205 | 14,173,007 |
essv25788940 | Remapped | Perfect | NC_000007.13:g.(?_ 14117117)_(1418936 8_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 14,117,117 | 14,189,368 |
essv25781506 | Remapped | Perfect | NC_000007.13:g.(?_ 14146830)_(1421263 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 14,146,830 | 14,212,632 |
essv25788940 | Submitted genomic | NC_000007.12:g.(?_ 14083642)_(1415589 3_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 14,083,642 | 14,155,893 | ||
essv25781506 | Submitted genomic | NC_000007.12:g.(?_ 14113355)_(1417915 7_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 14,113,355 | 14,179,157 |