A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6712n152



Internal ID22822415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83692949..83693079hg38UCSC Ensembl
chr4:84614102..84614232hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3280027, nsv3281318, nsv3282102
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6712n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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