A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758329



Internal ID9980406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:62625104..63048846hg38UCSC Ensembl
Innerchr13:63199237..63622979hg19UCSC Ensembl
Innerchr13:62097238..62520980hg18UCSC Ensembl
Innerchr13:62097238..62520980hg17UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38423743
hg19423743
hg18423743
hg17423743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759940
Supporting Variantsessv829, essv763
SamplesNA18973, NA18956
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)esv2758329
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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