A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4859n100



Internal ID20156475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129547870..129634490hg38UCSC Ensembl
chr3:129266713..129353333hg19UCSC Ensembl
chr3:130749403..130836023hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3886621
hg1986621
hg1886621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006521, nsv1008098, nsv1011450, nsv1014865, nsv1014759
Samples
Known GenesH1FOO, PLXND1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4859n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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