A curated catalogue of human genomic structural variation




Variant Details

Variant: essv829



Internal ID9970800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:62736729..63048846hg38UCSC Ensembl
Innerchr13:63310862..63622979hg19UCSC Ensembl
Innerchr13:62208863..62520980hg18UCSC Ensembl
Innerchr13:62208863..62520980hg17UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38312118
hg19312118
hg18312118
hg17312118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758329
Supporting Variants
SamplesNA18973
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)essv829
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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