A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10521



Internal ID9607583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69063983..69402371hg38UCSC Ensembl
Innerchr4:69929701..70268089hg19UCSC Ensembl
Innerchr4:69964290..70302678hg18UCSC Ensembl
Innerchr4:70110461..70448849hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38338389
hg19338389
hg18338389
hg17338389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757940
Supporting Variants
SamplesNA19240
Known GenesUGT2B11, UGT2B28, UGT2B7
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)essv10521
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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