esv3892206
- 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:584,142
- 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: 1778 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1778 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 540 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3892206 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 60,725,485 | 60,725,485 | 61,308,324 | 61,309,626 |
| esv3892206 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 61,119,266 | 61,119,266 | 61,702,105 | 61,703,407 |
| esv3892206 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 59,405,533 | 59,405,533 | 59,988,372 | 59,989,674 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25785585 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25779900 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25785585 | Remapped | Perfect | NC_000012.12:g.(?_ 60725485)_(6130832 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 60,725,485 | 61,308,324 |
| essv25779900 | Remapped | Perfect | NC_000012.12:g.(?_ 60725485)_(6130962 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 60,725,485 | 61,309,626 |
| essv25785585 | Remapped | Perfect | NC_000012.11:g.(?_ 61119266)_(6170210 5_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 61,119,266 | 61,702,105 |
| essv25779900 | Remapped | Perfect | NC_000012.11:g.(?_ 61119266)_(6170340 7_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 61,119,266 | 61,703,407 |
| essv25785585 | Submitted genomic | NC_000012.10:g.(?_ 59405533)_(5998837 2_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 59,405,533 | 59,988,372 | ||
| essv25779900 | Submitted genomic | NC_000012.10:g.(?_ 59405533)_(5998967 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 59,405,533 | 59,989,674 |