A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv514n145



Internal ID22813530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22163083..22171035hg38UCSC Ensembl
chr18:19743044..19750996hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg387953
hg197953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3112306, nsv3116496
Samplessample404, sample263
Known GenesGATA6, GATA6-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv514n145
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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