A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2109e212



Internal ID22785036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:114436156..114457244hg38UCSC Ensembl
chr8:115448385..115469473hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3821089
hg1921089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572948, esv3572947
Samples400123WN, 401762SD
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)dgv2109e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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