A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4999n100



Internal ID20156615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179227018..179528391hg38UCSC Ensembl
chr3:178944806..179246179hg19UCSC Ensembl
chr3:180427500..180728873hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38301374
hg19301374
hg18301374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006584, nsv1003021
Samples
Known GenesGNB4, KCNMB3, MFN1, PIK3CA, ZNF639
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4999n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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