A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6581n54



Internal ID20140005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54791531..54866553hg38UCSC Ensembl
chr19:55302983..55378008hg19UCSC Ensembl
chr19:59994795..60069820hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3875023
hg1975026
hg1875026
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv580332, nsv580331
Samples
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6581n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss9
Observed Complex0
Frequencyn/a


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