A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5042n100



Internal ID19015410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197449848..197677483hg38UCSC Ensembl
chr3:197176719..197404354hg19UCSC Ensembl
chr3:198661116..198888751hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38227636
hg19227636
hg18227636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011239, nsv1013781, nsv1009801
Samples
Known GenesBDH1, KIAA0226, LOC220729, MIR922
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5042n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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