A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6344n54



Internal ID22774239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:23437830..23888352hg38UCSC Ensembl
chr19:23620632..24071154hg19UCSC Ensembl
chr19:23412472..23862994hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38450523
hg19450523
hg18450523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv579048, nsv579047, nsv579050, nsv579049
Samples
Known GenesRPSAP58, ZNF675, ZNF681
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6344n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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