A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4391n100



Internal ID20156007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17364904..17763918hg38UCSC Ensembl
chr21:18737223..19136235hg19UCSC Ensembl
chr21:17659094..18058106hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38399015
hg19399013
hg18399013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060336, nsv1056327
Samples
Known GenesBTG3, C21orf37, CXADR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4391n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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