A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5337



Internal ID9627015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53562029..53824913hg38UCSC Ensembl
Innerchr8:54474589..54737473hg19UCSC Ensembl
Innerchr8:54637142..54900026hg18UCSC Ensembl
Innerchr8:54637142..54900026hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38262885
hg19262885
hg18262885
hg17262885
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758159
Supporting Variants
SamplesNA18563
Known GenesATP6V1H
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)essv5337
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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