A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22351



Internal ID9620727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47639666..47847805hg38UCSC Ensembl
Innerchr20:46268410..46476549hg19UCSC Ensembl
Innerchr20:45701817..45909956hg18UCSC Ensembl
Innerchr20:45701817..45909956hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38208140
hg19208140
hg18208140
hg17208140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758522
Supporting Variants
SamplesNA06985
Known GenesNCOA3, SULF2
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)essv22351
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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