A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4139n152



Internal ID22819842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12579033..12621231hg38UCSC Ensembl
chr19:12689847..12732045hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3842199
hg1942199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3212327, nsv3210460
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesZNF490, ZNF791
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4139n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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