A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1981n100



Internal ID20153597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105520391..105701138hg38UCSC Ensembl
chr14:105986728..106167475hg19UCSC Ensembl
chr14:105057773..105238520hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38180748
hg19180748
hg18180748
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1036023, nsv1054302
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2, TMEM121
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1981n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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