A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3342n100



Internal ID22789429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:42038289..42138636hg38UCSC Ensembl
chr18:39618253..39718600hg19UCSC Ensembl
chr18:37872251..37972598hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38100348
hg19100348
hg18100348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063952, nsv1057988, nsv1064973, nsv1057790, nsv1065792
Samples
Known GenesPIK3C3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3342n100
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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