A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3666n100



Internal ID20155282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54715542..54837236hg38UCSC Ensembl
chr19:55227045..55348691hg19UCSC Ensembl
chr19:59918857..60040503hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38121695
hg19121647
hg18121647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064650, nsv1057320, nsv1061918, nsv1067308, nsv1056166, nsv1057205, nsv1059327, nsv1059379, nsv1056571, nsv1057628, nsv1055149, nsv1067500, nsv1063628
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL3, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3666n100
Frequency
Sample Size29084
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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