A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5187n152



Internal ID22820890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17122783..17123138hg38UCSC Ensembl
chr20:17103428..17103783hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3182232, nsv3190276
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, 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)dgv5187n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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