A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5046n100



Internal ID22791133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197980751..198169134hg38UCSC Ensembl
chr3:197707622..197896005hg19UCSC Ensembl
chr3:199192019..199380402hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38188384
hg19188384
hg18188384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008263, nsv1001210, nsv1014559, nsv997245
Samples
Known GenesANKRD18DP, FAM157A, LMLN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5046n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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