A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1983n100



Internal ID22788070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105544959..105758175hg38UCSC Ensembl
chr14:106011296..106224512hg19UCSC Ensembl
chr14:105082341..105295557hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38213217
hg19213217
hg18213217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035573, nsv1053803, nsv1043653, nsv1051819
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1983n100
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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