A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9818241



Internal ID18316524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54772464..54867231hg38UCSC Ensembl
Innerchr19:55283916..55378686hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3894768
hg1994771
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3583557
Supporting Variants
Samples401085LA
Known GenesKIR2DL1, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, 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
CommentsNumber of probes=50
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9818241
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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