A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5033n152



Internal ID22820736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231441339..231441815hg38UCSC Ensembl
chr2:232306050..232306526hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3199126, nsv3525247
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, 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)dgv5033n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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