A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5369n152



Internal ID22821072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62971488..62971545hg38UCSC Ensembl
chr20:61602840..61602897hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219582, nsv3221562
SamplesHG00731, HG00733, 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)dgv5369n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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