A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4094n100



Internal ID20155710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151258123..151619882hg38UCSC Ensembl
chr2:152114637..152476396hg19UCSC Ensembl
chr2:151822883..152184642hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38361760
hg19361760
hg18361760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999748, nsv1011339, nsv1012139
Samples
Known GenesMIR4773-1, MIR4773-2, NEB, NMI, RBM43, RIF1, TNFAIP6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4094n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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