A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23680



Internal ID9956323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13165030..13337251hg38UCSC Ensembl
Innerchr5:13165142..13337363hg19UCSC Ensembl
Innerchr5:13218142..13390363hg18UCSC Ensembl
Innerchr5:13218142..13390363hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38172222
hg19172222
hg18172222
hg17172222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757985
Supporting Variants
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)essv23680
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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