A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5298n152



Internal ID22821001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50452075..50452133hg38UCSC Ensembl
chr20:49068612..49068670hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219326, nsv3290747
SamplesHG00512, NA19238, NA19240, HG00513
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)dgv5298n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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