A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv254n145



Internal ID22813270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41162576..41182767hg38UCSC Ensembl
chr12:41556378..41576569hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3820192
hg1920192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3117787, nsv3111255
Samplessample289, sample410
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv254n145
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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