A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796319



Internal ID18822640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:171058..183273hg38UCSC Ensembl
Innerchr16:221057..233272hg19UCSC Ensembl
Innerchr16:161057..173272hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3812216
hg1912216
hg1812216
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892753
Supporting Variants
Samples
Known GenesHBA1, HBA2, HBQ1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796319
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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