A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2787n100



Internal ID20154403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18870180..19117453hg38UCSC Ensembl
chr16:18881502..19128775hg19UCSC Ensembl
chr16:18789003..19036276hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38247274
hg19247274
hg18247274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041143, nsv1037501
Samples
Known GenesCOQ7, ITPRIPL2, SMG1, TMC7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2787n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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