A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4289n152



Internal ID22819992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45400750..45401078hg38UCSC Ensembl
chr19:45904008..45904336hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3522534, nsv3179505, nsv3179654
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPPP1R13L
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)dgv4289n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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