A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7418n152



Internal ID22823121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84428593..84430640hg38UCSC Ensembl
chr5:83724411..83726458hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg382048
hg192048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3202864, nsv3200156
SamplesNA19239, HG00731, NA19240, HG00733, 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)dgv7418n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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