A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7852



Internal ID9629809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:167813639..168010549hg38UCSC Ensembl
Innerchr4:168734790..168931700hg19UCSC Ensembl
Innerchr4:168971365..169168275hg18UCSC Ensembl
Innerchr4:169109520..169306430hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38196911
hg19196911
hg18196911
hg17196911
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757967
Supporting Variants
SamplesNA18558
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)essv7852
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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