A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv592n145



Internal ID22813608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54182408..54190647hg38UCSC Ensembl
chr19:54686289..54694498hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg388240
hg198210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3111665, nsv3110924, nsv3116167
Samplessample340, sample136, sample295
Known GenesMBOAT7, TSEN34
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv592n145
Frequency
Sample Size467
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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