esv3448872
- 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:419,178
- 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: 1146 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1146 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 445 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3448872 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 11,231,571 (-60, +50) | 11,650,748 (-40, +50) |
esv3448872 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 11,231,683 (-60, +50) | 11,650,860 (-40, +50) |
esv3448872 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 11,284,683 (-60, +50) | 11,703,860 (-40, +50) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv8835263 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv8835263 | Remapped | Perfect | NC_000005.10:g.(11 231511_11231621)_( 11650708_11650798) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 11,231,571 (-60, +50) | 11,650,748 (-40, +50) |
essv8835263 | Remapped | Perfect | NC_000005.9:g.(112 31623_11231733)_(1 1650820_11650910)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 11,231,683 (-60, +50) | 11,650,860 (-40, +50) |
essv8835263 | Submitted genomic | NC_000005.8:g.(112 84623_11284733)_(1 1703820_11703910)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 11,284,683 (-60, +50) | 11,703,860 (-40, +50) |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv8835263 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |