A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3675n100



Internal ID20155291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54786419..54856896hg38UCSC Ensembl
chr19:55297871..55368351hg19UCSC Ensembl
chr19:59989683..60060163hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3870478
hg1970481
hg1870481
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058798, nsv1060966, nsv1056983, nsv1064072, nsv1059048
Samples
Known GenesKIR2DL4, 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)dgv3675n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss9
Observed Complex0
Frequencyn/a


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