A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8590n54



Internal ID22776485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130413198..130413787hg38UCSC Ensembl
chr3:130132042..130132631hg19UCSC Ensembl
chr3:131614732..131615321hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38590
hg19590
hg18590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591714, nsv591720
Samples
Known GenesCOL6A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8590n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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