A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1376e212



Internal ID20149832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53859682..53883597hg38UCSC Ensembl
chr3:53893709..53917624hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3823916
hg1923916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568760, esv3568759
Samples400917CG, 400336BG, 401183HP, 401104DM, 401038LN, 400582WS, 400411TG, 400955BE, 400543CK, 401952UH, 400136DM, 400837HN, 401180GR
Known GenesACTR8, IL17RB
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)dgv1376e212
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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