A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5000n100



Internal ID20156616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179260056..179295493hg38UCSC Ensembl
chr3:178977844..179013281hg19UCSC Ensembl
chr3:180460538..180495975hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3835438
hg1935438
hg1835438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012352, nsv1014953, nsv999069
Samples
Known GenesKCNMB3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5000n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer