A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7138n100



Internal ID20158754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22929495..22988822hg38UCSC Ensembl
chr8:22787008..22846335hg19UCSC Ensembl
chr8:22842953..22902280hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3859328
hg1959328
hg1859328
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1020611, nsv1016016
Samples
Known GenesRHOBTB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7138n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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