A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2229n152



Internal ID22817932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38329317..38329389hg38UCSC Ensembl
chr13:38903454..38903526hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3226701, nsv3227829
SamplesNA19240
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)dgv2229n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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