A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19163



Internal ID9960908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21812371..22090409hg38UCSC Ensembl
Innerchr5:21812480..22090518hg19UCSC Ensembl
Innerchr5:21848237..22126275hg18UCSC Ensembl
Innerchr5:21848237..22126275hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38278039
hg19278039
hg18278039
hg17278039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757989
Supporting Variants
SamplesNA12865
Known GenesCDH12
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)essv19163
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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