A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10494n54



Internal ID22778389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32473615..32687441hg38UCSC Ensembl
chr6:32441392..32655218hg19UCSC Ensembl
chr6:32549370..32763196hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38213827
hg19213827
hg18213827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv602347, nsv602277, nsv602335, nsv602238, nsv602316, nsv602135, nsv602223, nsv602346, nsv602239, nsv602337, nsv602154, nsv602237
Samples
Known GenesHLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB5, HLA-DRB6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10494n54
Frequency
Sample Size17421
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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