A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757826



Internal ID9633285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113317372..113496203hg38UCSC Ensembl
Innerchr2:114074949..114253780hg19UCSC Ensembl
Innerchr2:113791419..113970250hg18UCSC Ensembl
Innerchr2:113791179..113970010hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38178832
hg19178832
hg18178832
hg17178832
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759085
Supporting Variantsessv20021, essv5327, essv901
SamplesNA18563, NA07048, NA19000
Known GenesCBWD2
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)esv2757826
Frequency
Sample Size270
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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