A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1078e212



Internal ID20149534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54717449..54832275hg38UCSC Ensembl
chr19:55228948..55343730hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38114827
hg19114783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574986, esv3574975
Samples400971MK, 400247CL
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR3DL1, KIR3DL3, LOC100287534
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)dgv1078e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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