A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2203n152



Internal ID22817906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29492043..29492115hg38UCSC Ensembl
chr13:30066180..30066252hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223670, nsv3228300
SamplesNA19240
Known GenesMTUS2
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)dgv2203n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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