A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7188n100



Internal ID19017556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43152014..43726076hg38UCSC Ensembl
chr8:43007157..43581219hg19UCSC Ensembl
chr8:43126314..43700376hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38574063
hg19574063
hg18574063
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1027939, nsv1015475
Samples
Known GenesHGSNAT, POTEA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7188n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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