A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569151



Internal ID18697349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186255302..186264021hg38UCSC Ensembl
Innerchr3:185973091..185981810hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg388720
hg198720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1433e212
Supporting Variantsessv9769108
Samples400733SW
Known GenesDGKG
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3569151
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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