esv3692754
- Organism: Homo sapiens
- Study:estd220 (Pettigrew et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,832
- Publication(s):Pettigrew 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: 669 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 464 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 466 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 720 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3692754 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 44,935 | 44,935 | 65,765 | 65,766 |
| esv3692754 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 1,034 | 21,864 | 21,865 |
| esv3692754 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 37,256 | 58,086 | 58,087 |
| esv3692754 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 44,935 | 44,935 | 65,765 | 65,766 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16507026 | duplication | FR-46 | SNP array | SNP genotyping analysis | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16507026 | Remapped | Perfect | NT_187558.1:g.(103 4_1034)_(21864_218 65)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 1,034 | 21,864 | 21,865 |
| essv16507026 | Remapped | Perfect | NT_187653.1:g.(372 56_37256)_(58086_5 8087)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 37,256 | 58,086 | 58,087 |
| essv16507026 | Remapped | Perfect | NC_000007.14:g.(44 935_44935)_(65765_ 65766)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 44,935 | 65,765 | 65,766 |
| essv16507026 | Submitted genomic | NC_000007.13:g.(44 935_44935)_(65765_ 65766)dup20830 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 44,935 | 65,765 | 65,766 |