A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3976n152



Internal ID22819679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78829993..78847503hg38UCSC Ensembl
chr18:76589993..76607503hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3817511
hg1917511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3210642, nsv3219655
SamplesHG00733, HG00514
Known Genes
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3976n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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