A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11156



Internal ID9978247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21909967..22133283hg38UCSC Ensembl
Innerchr5:21910076..22133392hg19UCSC Ensembl
Innerchr5:21945833..22169149hg18UCSC Ensembl
Innerchr5:21945833..22169149hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38223317
hg19223317
hg18223317
hg17223317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757989
Supporting Variants
SamplesNA19211
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)essv11156
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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