A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2180e212



Internal ID20150636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113092073..113126748hg38UCSC Ensembl
chr9:115854353..115889028hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3834676
hg1934676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576688, esv3576689
Samples400043HC, 401203MP
Known GenesFAM225A, FAM225B
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)dgv2180e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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