A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12644



Internal ID9961563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:11809259..12286198hg38UCSC Ensembl
Innerchr20:11789907..12266846hg19UCSC Ensembl
Innerchr20:11737907..12214846hg18UCSC Ensembl
Innerchr20:11737907..12214846hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38476940
hg19476940
hg18476940
hg17476940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758514
Supporting Variants
SamplesNA18500
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)essv12644
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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