A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8589n54



Internal ID22776484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130413146..130414007hg38UCSC Ensembl
chr3:130131990..130132851hg19UCSC Ensembl
chr3:131614680..131615541hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38862
hg19862
hg18862
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591715, nsv591713, nsv591717, nsv591721, nsv591716, nsv591718, nsv591712
Samples
Known GenesCOL6A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8589n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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