A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2069



Internal ID9969225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21778632..22090409hg38UCSC Ensembl
Innerchr5:21778741..22090518hg19UCSC Ensembl
Innerchr5:21814498..22126275hg18UCSC Ensembl
Innerchr5:21814498..22126275hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38311778
hg19311778
hg18311778
hg17311778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757989
Supporting Variants
SamplesNA18949
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)essv2069
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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