A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12367n54



Internal ID22780262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140431882..140524741hg38UCSC Ensembl
chr8:141441981..141534840hg19UCSC Ensembl
chr8:141511163..141604022hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3892860
hg1992860
hg1892860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612563, nsv612567, nsv612565, nsv612564
Samples
Known GenesCHRAC1, TRAPPC9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12367n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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