A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1821n152



Internal ID22817524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42227963..42228478hg38UCSC Ensembl
chr12:42621765..42622280hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38516
hg19516
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3274189, nsv3277503
SamplesNA19240, HG00733
Known GenesYAF2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1821n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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