A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759203



Internal ID9981348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:176075262..176315811hg38UCSC Ensembl
Innerchr3:175793050..176033599hg19UCSC Ensembl
Innerchr3:177275744..177516293hg18UCSC Ensembl
Innerchr3:177275752..177516301hg17UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38240550
hg19240550
hg18240550
hg17240550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757906
SamplesNA19222, NA18523
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)esv2759203
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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