esv3890983
- 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:76,618
- 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: 1617 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1617 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 538 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3890983 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 162,281,502 | 162,303,215 | 162,358,119 | 162,358,119 |
| esv3890983 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 162,702,534 | 162,724,247 | 162,779,151 | 162,779,151 |
| esv3890983 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 162,622,524 | 162,644,237 | 162,699,141 | 162,699,141 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25789428 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25778477 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25789428 | Remapped | Perfect | NC_000006.12:g.(?_ 162281502)_(162358 119_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 162,281,502 | 162,358,119 |
| essv25778477 | Remapped | Perfect | NC_000006.12:g.(?_ 162303215)_(162358 119_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 162,303,215 | 162,358,119 |
| essv25789428 | Remapped | Perfect | NC_000006.11:g.(?_ 162702534)_(162779 151_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 162,702,534 | 162,779,151 |
| essv25778477 | Remapped | Perfect | NC_000006.11:g.(?_ 162724247)_(162779 151_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 162,724,247 | 162,779,151 |
| essv25789428 | Submitted genomic | NC_000006.10:g.(?_ 162622524)_(162699 141_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 162,622,524 | 162,699,141 | ||
| essv25778477 | Submitted genomic | NC_000006.10:g.(?_ 162644237)_(162699 141_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 162,644,237 | 162,699,141 |