A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758514



Internal ID9980591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:11709373..12452745hg38UCSC Ensembl
Innerchr20:11690021..12433393hg19UCSC Ensembl
Innerchr20:11638021..12381393hg18UCSC Ensembl
Innerchr20:11638021..12381393hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38743373
hg19743373
hg18743373
hg17743373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758782
Supporting Variantsessv16060, essv12644
SamplesNA18501, NA18500
Known GenesBTBD3
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)esv2758514
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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