A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9101n152



Internal ID22824804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23328001..23332850hg38UCSC Ensembl
chr8:23185514..23190363hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg384850
hg194850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3215981, nsv3218020
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOXL2
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)dgv9101n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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