A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757931



Internal ID9980008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34216372..34472909hg38UCSC Ensembl
Innerchr4:34217994..34474531hg19UCSC Ensembl
Innerchr4:33894389..34150926hg18UCSC Ensembl
Innerchr4:34040560..34297097hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38256538
hg19256538
hg18256538
hg17256538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759246
Supporting Variantsessv14301
SamplesNA19194
Known Genes
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)esv2757931
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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