A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3873n152



Internal ID22819576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57276751..57289145hg38UCSC Ensembl
chr18:54943982..54956376hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3812395
hg1912395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3213359, nsv3218169
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3873n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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