esv3337622
- 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:378,032
- 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: 762 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 762 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 213 SVs from 16 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3337622 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 54,206,358 (-60, +50) | 54,584,389 (-40, +50) |
esv3337622 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 52,283,719 (-60, +50) | 52,661,750 (-40, +50) |
esv3337622 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 49,638,718 (-60, +50) | 50,016,749 (-40, +50) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv8819835 | deletion | SAMN00001696 | Sequencing | Split read mapping | 44,056 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv8819835 | Remapped | Perfect | NC_000017.11:g.(54 206298_54206408)_( 54584349_54584439) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,206,358 (-60, +50) | 54,584,389 (-40, +50) |
essv8819835 | Remapped | Perfect | NC_000017.10:g.(52 283659_52283769)_( 52661710_52661800) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 52,283,719 (-60, +50) | 52,661,750 (-40, +50) |
essv8819835 | Submitted genomic | NC_000017.9:g.(496 38658_49638768)_(5 0016709_50016799)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 49,638,718 (-60, +50) | 50,016,749 (-40, +50) |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv8819835 | 18 | SAMN00001696 | Oligo aCGH | Probe signal intensity | Fail |