A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5500n152



Internal ID22821203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:28823475..28830878hg38UCSC Ensembl
chr21:30195797..30203200hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg387404
hg197404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3217272, nsv3223073
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)dgv5500n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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