A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2187e212



Internal ID22785114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135248143..135417433hg38UCSC Ensembl
chr9:138139989..138309279hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38169291
hg19169291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576715, esv3576714, esv3576712, esv3576716
Samples401155ML, 400478WE, 401334DH, 400677HD, 401152MV
Known GenesC9orf62
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)dgv2187e212
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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