A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12393n54



Internal ID22780288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142281676..142327424hg38UCSC Ensembl
chr8:143363037..143408785hg19UCSC Ensembl
chr8:143360944..143406692hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3845749
hg1945749
hg1845749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612693, nsv612694
SamplesHGDP00438, HGDP00841
Known GenesTSNARE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12393n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer