A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7238n100



Internal ID22793325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68816385..68930853hg38UCSC Ensembl
chr8:69728620..69843088hg19UCSC Ensembl
chr8:69891174..70005642hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38114469
hg19114469
hg18114469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1031642, nsv1033122, nsv1018791
Samples
Known GenesC8orf34, LOC100505718
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7238n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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