A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1349e212



Internal ID20149805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2252104..2258572hg38UCSC Ensembl
chr3:2293788..2300256hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg386469
hg196469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568550, esv3568549
Samples400759FV, 400627CC, 400660GK
Known GenesCNTN4
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)dgv1349e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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