A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1199e212



Internal ID22784126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190461225..190477989hg38UCSC Ensembl
chr2:191325951..191342715hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3816765
hg1916765
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584250, esv3584251
Samples400347VJ, 401438HT
Known GenesMFSD6
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)dgv1199e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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