A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9130n152



Internal ID22824833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33308975..33309046hg38UCSC Ensembl
chr8:33166493..33166564hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219885, nsv3217817
SamplesHG00512, 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)dgv9130n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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