A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1086e212



Internal ID20149542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54819186..54854162hg38UCSC Ensembl
chr19:55330641..55365617hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3834977
hg1934977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583568, esv3583534
Samples400101EH, 400626FC, 400121PL, 400843FL, 401968HL, 401813DN, 401608GE, 401829FJ, 400130HA
Known GenesKIR2DS4, KIR3DL1, KIR3DL2
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)dgv1086e212
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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