A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv416e212



Internal ID20148872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117208667..117211758hg38UCSC Ensembl
chr11:117079383..117082474hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383092
hg193092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579920, esv3579919
Samples400130HA, 401105WS, 400277LM, 400599CP, 401582GG, 400266BA, 401477ST, 400729HC
Known GenesPCSK7
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)dgv416e212
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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