A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5382



Internal ID9627065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31262811..31385001hg38UCSC Ensembl
Innerchr6:31230588..31352778hg19UCSC Ensembl
Innerchr6:31338567..31460757hg18UCSC Ensembl
Innerchr6:31338567..31460757hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38122191
hg19122191
hg18122191
hg17122191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758042
Supporting Variants
SamplesNA18563
Known GenesHLA-B, HLA-C, MIR6891
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)essv5382
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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