A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7279n100



Internal ID20158895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103349626..103867456hg38UCSC Ensembl
chr8:104361854..104879684hg19UCSC Ensembl
chr8:104431030..104948860hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38517831
hg19517831
hg18517831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1032085, nsv1021345
Samples
Known GenesCTHRC1, DCAF13, RIMS2, SLC25A32
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7279n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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