A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759248



Internal ID9981393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40533010..40737450hg38UCSC Ensembl
Innerchr4:40535027..40739467hg19UCSC Ensembl
Innerchr4:40229784..40434224hg18UCSC Ensembl
Innerchr4:40375955..40580395hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38204441
hg19204441
hg18204441
hg17204441
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757933
SamplesNA18857
Known GenesRBM47
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)esv2759248
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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