A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2259n152



Internal ID22817962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46451133..46473189hg38UCSC Ensembl
chr13:47025268..47047324hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3822057
hg1922057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221832, nsv3214484
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00513, 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)dgv2259n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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