A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583540



Internal ID18365052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54796415..54867790hg38UCSC Ensembl
Innerchr19:55307868..55379245hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3871376
hg1971378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1083e212
Supporting Variantsessv9818253, essv9818252
Samples400948EV, 400547BS
Known GenesKIR2DL4, 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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3583540
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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