A curated catalogue of human genomic structural variation




Variant Details

Variant: essv892



Internal ID9630995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179234265..179610528hg38UCSC Ensembl
Innerchr5:178661266..179037529hg19UCSC Ensembl
Innerchr5:178593872..178970135hg18UCSC Ensembl
Innerchr5:178593872..178970135hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38376264
hg19376264
hg18376264
hg17376264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758031
Supporting Variants
SamplesNA19000
Known GenesADAMTS2, RUFY1
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)essv892
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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