A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2341n152



Internal ID22818044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79392098..79392185hg38UCSC Ensembl
chr13:79966233..79966320hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223488, nsv3283773
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesRBM26
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)dgv2341n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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