A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3479n100



Internal ID22789566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:23438071..23888352hg38UCSC Ensembl
chr19:23620873..24071154hg19UCSC Ensembl
chr19:23412713..23862994hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38450282
hg19450282
hg18450282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059279, nsv1061876
Samples
Known GenesRPSAP58, ZNF675, ZNF681
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3479n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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