A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2313n152



Internal ID22818016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:66146688..66147036hg38UCSC Ensembl
chr13:66720820..66721168hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221152, nsv3213525
SamplesNA19238, NA19239, NA19240
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2313n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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