esv3891258
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:193,049
- 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: 1855 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1855 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 800 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3891258 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 4,088,316 | 4,163,237 | 4,262,548 | 4,281,364 |
| esv3891258 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 3,945,838 | 4,020,759 | 4,120,070 | 4,138,886 |
| esv3891258 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 3,933,246 | 4,008,167 | 4,107,478 | 4,126,294 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25800586 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25800730 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25791431 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25791762 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25800586 | Remapped | Perfect | NC_000008.11:g.(?_ 4088316)_(4262548_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,088,316 | 4,262,548 |
| essv25800730 | Remapped | Perfect | NC_000008.11:g.(?_ 4088316)_(4262548_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,088,316 | 4,262,548 |
| essv25791431 | Remapped | Perfect | NC_000008.11:g.(?_ 4163237)_(4281364_ ?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,163,237 | 4,281,364 |
| essv25791762 | Remapped | Perfect | NC_000008.11:g.(?_ 4163237)_(4281364_ ?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,163,237 | 4,281,364 |
| essv25800586 | Remapped | Perfect | NC_000008.10:g.(?_ 3945838)_(4120070_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 3,945,838 | 4,120,070 |
| essv25800730 | Remapped | Perfect | NC_000008.10:g.(?_ 3945838)_(4120070_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 3,945,838 | 4,120,070 |
| essv25791431 | Remapped | Perfect | NC_000008.10:g.(?_ 4020759)_(4138886_ ?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 4,020,759 | 4,138,886 |
| essv25791762 | Remapped | Perfect | NC_000008.10:g.(?_ 4020759)_(4138886_ ?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 4,020,759 | 4,138,886 |
| essv25800586 | Submitted genomic | NC_000008.9:g.(?_3 933246)_(4107478_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 3,933,246 | 4,107,478 | ||
| essv25800730 | Submitted genomic | NC_000008.9:g.(?_3 933246)_(4107478_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 3,933,246 | 4,107,478 | ||
| essv25791431 | Submitted genomic | NC_000008.9:g.(?_4 008167)_(4126294_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 4,008,167 | 4,126,294 | ||
| essv25791762 | Submitted genomic | NC_000008.9:g.(?_4 008167)_(4126294_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 4,008,167 | 4,126,294 |