A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23687



Internal ID9622210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32535132..32737657hg38UCSC Ensembl
Innerchr6:32502909..32705434hg19UCSC Ensembl
Innerchr6:32610887..32813412hg18UCSC Ensembl
Innerchr6:32610887..32813412hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38202526
hg19202526
hg18202526
hg17202526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758044
Supporting Variants
SamplesNA10863
Known GenesHLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB6
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv23687
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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