esv3445974
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Fail
- Clinical Assertions: No
- Region Size:339,647
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 706 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 706 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3445974 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 93,692,048 (-60, +50) | 94,031,694 (-40, +50) |
| esv3445974 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 94,401,766 (-60, +50) | 94,741,412 (-40, +50) |
| esv3445974 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 94,458,487 (-60, +50) | 94,798,133 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8838772 | deletion | SAMN00801888 | Sequencing | Split read mapping | 69,298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8838772 | Remapped | Perfect | NC_000006.12:g.(93 691988_93692098)_( 94031654_94031744) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 93,692,048 (-60, +50) | 94,031,694 (-40, +50) |
| essv8838772 | Remapped | Perfect | NC_000006.11:g.(94 401706_94401816)_( 94741372_94741462) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 94,401,766 (-60, +50) | 94,741,412 (-40, +50) |
| essv8838772 | Submitted genomic | NC_000006.10:g.(94 458427_94458537)_( 94798093_94798183) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 94,458,487 (-60, +50) | 94,798,133 (-40, +50) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8838772 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |