A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13039



Internal ID9966773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131836052..132009571hg38UCSC Ensembl
Innerchr4:132757207..132930726hg19UCSC Ensembl
Innerchr4:132976657..133150176hg18UCSC Ensembl
Innerchr4:133114812..133288331hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38173520
hg19173520
hg18173520
hg17173520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757954
Supporting Variants
SamplesNA18852
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)essv13039
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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