A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4749n100



Internal ID20156365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58504269..60219035hg38UCSC Ensembl
chr3:58489996..60204763hg19UCSC Ensembl
chr3:58465036..60179803hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381714767
hg191714768
hg181714768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005531, nsv1012688, nsv997547
Samples
Known GenesACOX2, C3orf67, FAM107A, FAM3D, FHIT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4749n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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