esv3890780
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:107,072
- 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: 2251 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 2251 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 973 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3890780 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 274,847 | 296,257 | 361,547 | 381,918 |
| esv3890780 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 274,847 | 296,257 | 361,547 | 381,918 |
| esv3890780 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 219,847 | 241,257 | 306,547 | 326,918 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25786449 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25801679 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25788952 | copy number gain | SNP array | Probe signal intensity | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25786449 | Remapped | Perfect | NC_000006.12:g.(?_ 274847)_(361547_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 274,847 | 361,547 |
| essv25801679 | Remapped | Perfect | NC_000006.12:g.(?_ 283468)_(361547_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 283,468 | 361,547 |
| essv25788952 | Remapped | Perfect | NC_000006.12:g.(?_ 296257)_(381918_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 296,257 | 381,918 |
| essv25786449 | Remapped | Perfect | NC_000006.11:g.(?_ 274847)_(361547_?) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 274,847 | 361,547 |
| essv25801679 | Remapped | Perfect | NC_000006.11:g.(?_ 283468)_(361547_?) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 283,468 | 361,547 |
| essv25788952 | Remapped | Perfect | NC_000006.11:g.(?_ 296257)_(381918_?) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 296,257 | 381,918 |
| essv25786449 | Submitted genomic | NC_000006.10:g.(?_ 219847)_(306547_?) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 219,847 | 306,547 | ||
| essv25801679 | Submitted genomic | NC_000006.10:g.(?_ 228468)_(306547_?) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 228,468 | 306,547 | ||
| essv25788952 | Submitted genomic | NC_000006.10:g.(?_ 241257)_(326918_?) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 241,257 | 326,918 |