A curated catalogue of human genomic structural variation




Variant Details

Variant: essv768



Internal ID9629617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179234265..179517328hg38UCSC Ensembl
Innerchr5:178661266..178944329hg19UCSC Ensembl
Innerchr5:178593872..178876935hg18UCSC Ensembl
Innerchr5:178593872..178876935hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38283064
hg19283064
hg18283064
hg17283064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758031
Supporting Variants
SamplesNA18956
Known GenesADAMTS2
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)essv768
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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