A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20653



Internal ID9961456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34098944..34369764hg38UCSC Ensembl
Innerchr5:34099049..34369869hg19UCSC Ensembl
Innerchr5:34134806..34405626hg18UCSC Ensembl
Innerchr5:34134806..34405626hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38270821
hg19270821
hg18270821
hg17270821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757994
Supporting Variants
SamplesNA12892
Known GenesC1QTNF3-AMACR
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)essv20653
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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