A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2593n152



Internal ID22818296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39277673..39277737hg38UCSC Ensembl
chr14:39746877..39746941hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3283411, nsv3286620
SamplesNA19240, HG00733
Known GenesCTAGE5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2593n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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