A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759958



Internal ID9982103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93522401..93695926hg38UCSC Ensembl
Innerchr13:94174654..94348179hg19UCSC Ensembl
Innerchr13:92972655..93146180hg18UCSC Ensembl
Innerchr13:92972655..93146180hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38173526
hg19173526
hg18173526
hg17173526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758340
SamplesNA12752
Known GenesGPC6
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)esv2759958
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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