A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15864



Internal ID9613518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:167813440..168010549hg38UCSC Ensembl
Innerchr4:168734591..168931700hg19UCSC Ensembl
Innerchr4:168971166..169168275hg18UCSC Ensembl
Innerchr4:169109321..169306430hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38197110
hg19197110
hg18197110
hg17197110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757967
Supporting Variants
SamplesNA19223
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)essv15864
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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