A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758159



Internal ID9633618
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 StatusM
Merged Variantsesv2759616
Supporting Variantsessv5337, essv7595
SamplesNA18545, NA18563
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)esv2758159
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer