A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12054n54



Internal ID19004230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22045805..22251098hg38UCSC Ensembl
chr8:21903316..22108611hg19UCSC Ensembl
chr8:21959262..22164556hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38205294
hg19205296
hg18205295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610767, nsv610766
SamplesNINDS_51
Known GenesBMP1, DMTN, FAM160B2, FGF17, HR, LGI3, MIR320A, NUDT18, PHYHIP, POLR3D, REEP4, SFTPC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12054n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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