A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758262



Internal ID9633721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:32693097..33028394hg38UCSC Ensembl
Innerchr11:32714643..33049940hg19UCSC Ensembl
Innerchr11:32671219..33006516hg18UCSC Ensembl
Innerchr11:32671219..33006516hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38335298
hg19335298
hg18335298
hg17335298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759815
Supporting Variantsessv7540
SamplesNA18545
Known GenesCCDC73, DEPDC7, PRRG4, QSER1
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)esv2758262
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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