A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1079e212



Internal ID20149535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54736427..54796415hg38UCSC Ensembl
chr19:55247894..55307868hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3859989
hg1959975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583535, esv3583533, esv3583545, esv3583542
Samples400649PS, 400362TV, 401567BD, 400225CJ, 400792RE, 401526WB, 401487FW, 400615RI, 400460DM, 400743LS, 402029KJ, 400063BR, 401873BK, 401475MK, 400356MC, 400134WK, 400859SC, 400749VW, 400833BB, 400138LA, 401711WS
Known GenesKIR2DL1, KIR2DL3, 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)dgv1079e212
Frequency
Sample Size873
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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