A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2162e212



Internal ID22785089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77151845..77171285hg38UCSC Ensembl
chr9:79766761..79786201hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3819441
hg1919441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576667, esv3576673, esv3576674, esv3576675, esv3576669, esv3576665
Samples401221LD, 400114GR, 401281BP, 402038MR, 401067BD, 401919MD, 401016IT, 401958MF, 401612HB
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)dgv2162e212
Frequency
Sample Size873
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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