A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9123n152



Internal ID22824826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30309862..30309928hg38UCSC Ensembl
chr8:30167378..30167444hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223931, nsv3227453
SamplesNA19240, 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)dgv9123n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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