A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5952n152



Internal ID22821655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44510750..44510803hg38UCSC Ensembl
chr3:44552242..44552295hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3193836, nsv3207638
SamplesHG00732, HG00733
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)dgv5952n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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