A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2333n152



Internal ID22818036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73575271..73575372hg38UCSC Ensembl
chr13:74149408..74149509hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3285641, nsv3284094
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2333n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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