A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758647



Internal ID9980792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54530370..54718297hg38UCSC Ensembl
Innerchr16:54564282..54752209hg19UCSC Ensembl
Innerchr16:53121783..53309710hg18UCSC Ensembl
Innerchr16:53121783..53309710hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38187928
hg19187928
hg18187928
hg17187928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758425
SamplesNA18624
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)esv2758647
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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