A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1818e212



Internal ID22784745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:98032703..98040383hg38UCSC Ensembl
chr6:98480579..98488259hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg387681
hg197681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571312, esv3571311
Samples401589HP, 401506LK
Known Genes
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)dgv1818e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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