A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2060e212



Internal ID22784987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22156088..22162384hg38UCSC Ensembl
chr8:22013601..22019897hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg386297
hg196297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572632, esv3572629
Samples401806DL, 401434VN, 400127MD, 402061PI, 401198TI, 401419SW, 400844GP, 400361HC, 401288LD
Known GenesLGI3, SFTPC
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)dgv2060e212
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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