A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1211



Internal ID9609348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68909693..69392737hg38UCSC Ensembl
Innerchr4:69775411..70258455hg19UCSC Ensembl
Innerchr4:69810000..70293044hg18UCSC Ensembl
Innerchr4:69956171..70439215hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38483045
hg19483045
hg18483045
hg17483045
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757940
Supporting Variants
SamplesNA18951
Known GenesUGT2A3, UGT2B10, UGT2B11, 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)essv1211
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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