A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1406n100



Internal ID20153022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27128236..27640822hg38UCSC Ensembl
chr12:27281169..27793755hg19UCSC Ensembl
chr12:27172436..27685022hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38512587
hg19512587
hg18512587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1043309, nsv1045111, nsv1036073
Samples
Known GenesARNTL2, PPFIBP1, SMCO2, STK38L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1406n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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