A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3985n152



Internal ID22819688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78971516..79039329hg38UCSC Ensembl
chr18:76731516..76799329hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3867814
hg1967814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3214413, nsv3210480
SamplesHG00732, HG00733
Known GenesSALL3
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)dgv3985n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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