A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2489n152



Internal ID22818192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113262767..113263115hg38UCSC Ensembl
chr13:113917081..113917429hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3283852, nsv3284093
SamplesNA19240, HG00514
Known GenesCUL4A, MIR8075
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2489n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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