A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5203



Internal ID9965667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:51793952..51971936hg38UCSC Ensembl
Innerchr4:52660118..52838102hg19UCSC Ensembl
Innerchr4:52354875..52532859hg18UCSC Ensembl
Innerchr4:52501046..52679030hg17UCSC Ensembl
Cytoband4q11
Allele length
AssemblyAllele length
hg38177985
hg19177985
hg18177985
hg17177985
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757935
Supporting Variants
SamplesNA18611
Known GenesDCUN1D4
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)essv5203
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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