A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5045n100



Internal ID20156661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197843263..198129562hg38UCSC Ensembl
chr3:197570134..197856433hg19UCSC Ensembl
chr3:199054531..199340830hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38286300
hg19286300
hg18286300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011307, nsv1009651
Samples
Known GenesANKRD18DP, IQCG, LMLN, LRCH3, RPL35A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5045n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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