A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12056n54



Internal ID20145480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22696108..22721359hg38UCSC Ensembl
chr8:22553621..22578872hg19UCSC Ensembl
chr8:22609566..22634817hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3825252
hg1925252
hg1825252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610772, nsv610773
Samples
Known GenesPEBP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12056n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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