A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2463n152



Internal ID22818166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112441501..112449950hg38UCSC Ensembl
chr13:113095815..113104264hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg388450
hg198450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3217796, nsv3222277
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, 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)dgv2463n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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