A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24719



Internal ID9623357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111009686..111154564hg38UCSC Ensembl
Innerchr13:111662033..111806911hg19UCSC Ensembl
Innerchr13:110460034..110604912hg18UCSC Ensembl
Innerchr13:110460034..110604912hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38144879
hg19144879
hg18144879
hg17144879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758344
Supporting Variants
SamplesNA11829
Known GenesARHGEF7
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)essv24719
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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