A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2153n152



Internal ID22817856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:18420600..18420748hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3216701, nsv3285507, nsv3220085
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, 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)dgv2153n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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