A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1984n100



Internal ID20153600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105563288..105854269hg38UCSC Ensembl
chr14:106029625..106320374hg19UCSC Ensembl
chr14:105100670..105391419hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38290982
hg19290750
hg18290750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050098, nsv1039859, nsv1045941, nsv1046967, nsv1043384, nsv1047646, nsv1048108, nsv1052262, nsv1043056, nsv1050083, nsv1047142
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)dgv1984n100
Frequency
Sample Size29084
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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