A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3672n100



Internal ID20155288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54736641..54867232hg38UCSC Ensembl
chr19:55248107..55378687hg19UCSC Ensembl
chr19:59939919..60070499hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38130592
hg19130581
hg18130581
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065142, nsv1060090, nsv1057568
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3672n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss3
Observed Complex0
Frequencyn/a


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