A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12189n54



Internal ID22780084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69512036..69552678hg38UCSC Ensembl
chr8:70424271..70464913hg19UCSC Ensembl
chr8:70586825..70627467hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3840643
hg1940643
hg1840643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611481, nsv611482
SamplesHGDP00952, HGDP00961
Known GenesSULF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12189n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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