A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3795n152



Internal ID22819498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26593491..26593549hg38UCSC Ensembl
chr18:24173455..24173513hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3527920, nsv3295428, nsv3228835
SamplesNA19238, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesKCTD1
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3795n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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