A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7300n100



Internal ID22793387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116618444..116633448hg38UCSC Ensembl
chr8:117630683..117645687hg19UCSC Ensembl
chr8:117699864..117714868hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3815005
hg1915005
hg1815005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1024038, nsv1016449
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7300n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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