A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1499n100



Internal ID20153115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50297256..50477759hg38UCSC Ensembl
chr12:50691039..50871542hg19UCSC Ensembl
chr12:48977306..49157809hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38180504
hg19180504
hg18180504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1054480, nsv1041563, nsv1049665
Samples
Known GenesFAM186A, LARP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1499n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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