A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759630



Internal ID9635089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:92531465..92700698hg38UCSC Ensembl
Innerchr8:93543693..93712926hg19UCSC Ensembl
Innerchr8:93612869..93782102hg18UCSC Ensembl
Innerchr8:93612869..93782102hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38169234
hg19169234
hg18169234
hg17169234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758165
SamplesNA12763
Known Genes
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)esv2759630
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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