A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3347n54



Internal ID20136771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98576197..98577546hg38UCSC Ensembl
chr13:99228451..99229800hg19UCSC Ensembl
chr13:98026452..98027801hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg381350
hg191350
hg181350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv562878, nsv562891
Samples
Known GenesSTK24
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3347n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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