A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758327



Internal ID9980404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48709847..48898381hg38UCSC Ensembl
Innerchr13:49283983..49472517hg19UCSC Ensembl
Innerchr13:48181984..48370518hg18UCSC Ensembl
Innerchr13:48181984..48370518hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38188535
hg19188535
hg18188535
hg17188535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759936
Supporting Variantsessv23677
SamplesNA10863
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)esv2758327
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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