A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12190n54



Internal ID22780085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70986138..71051176hg38UCSC Ensembl
chr8:71898373..71963411hg19UCSC Ensembl
chr8:72060927..72125965hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3865039
hg1965039
hg1865039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611488, nsv611489
SamplesHGDP00617, HGDP00635
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12190n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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