A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758012



Internal ID9980089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:110306159..110692460hg38UCSC Ensembl
Innerchr5:109641860..110028161hg19UCSC Ensembl
Innerchr5:109669759..110056060hg18UCSC Ensembl
Innerchr5:109669759..110056060hg17UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38386302
hg19386302
hg18386302
hg17386302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759369
Supporting Variantsessv22481
SamplesNA11882
Known GenesTMEM232
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)esv2758012
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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