A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5949n152



Internal ID22821652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42471069..42471127hg38UCSC Ensembl
chr3:42512561..42512619hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3205863, nsv3199310
SamplesHG00512, HG00514
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)dgv5949n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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