A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1498n100



Internal ID20153114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50240559..50407969hg38UCSC Ensembl
chr12:50634342..50801752hg19UCSC Ensembl
chr12:48920609..49088019hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38167411
hg19167411
hg18167411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053667, nsv1035796
Samples
Known GenesFAM186A, LARP4, LIMA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1498n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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