A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1072e212



Internal ID22783999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54215071..54248358hg38UCSC Ensembl
chr19:54718940..54752217hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3833288
hg1933278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574898, esv3574909, esv3574920, esv3574931, esv3574864
Samples401799DP, 400739SS, 401698SB, 400496BL, 400082SD, 402022SM, 401580CA
Known GenesLILRA6, LILRB3
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)dgv1072e212
Frequency
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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