A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8338n54



Internal ID20141762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58491434..58492314hg38UCSC Ensembl
chr3:58477161..58478041hg19UCSC Ensembl
chr3:58452201..58453081hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38881
hg19881
hg18881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590373, nsv590374
Samples
Known GenesKCTD6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8338n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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