A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7250n100



Internal ID22793337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83854245..83903649hg38UCSC Ensembl
chr8:84766480..84815884hg19UCSC Ensembl
chr8:84929035..84978439hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3849405
hg1949405
hg1849405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1033027, nsv1033691
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)dgv7250n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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