A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3116n100



Internal ID20154732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18957985..19190235hg38UCSC Ensembl
chr17:18861298..19093548hg19UCSC Ensembl
chr17:18802023..19034141hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38232251
hg19232251
hg18232119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055425, nsv1059296
Samples
Known GenesFAM83G, GRAP, GRAPL, SLC5A10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3116n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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