A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7187n100



Internal ID19017555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43081800..43968893hg38UCSC Ensembl
chr8:42936943..43824036hg19UCSC Ensembl
chr8:43056100..43943193hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38887094
hg19887094
hg18887094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1026805, nsv1034852, nsv1029910, nsv1021144, nsv1021734, nsv1034685, nsv1021319
Samples
Known GenesFNTA, HGSNAT, POMK, POTEA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7187n100
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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