A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13834



Internal ID9611263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:46157237..46336238hg38UCSC Ensembl
Innerchr20:44785876..44964876hg19UCSC Ensembl
Innerchr20:44219283..44398283hg18UCSC Ensembl
Innerchr20:44219283..44398283hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38179002
hg19179001
hg18179001
hg17179001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758521
Supporting Variants
SamplesNA18854
Known GenesCDH22
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)essv13834
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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