A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4288n152



Internal ID22819991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45229188..45229314hg38UCSC Ensembl
chr19:45732446..45732572hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3296764, nsv3533715
SamplesNA19239, NA19240
Known GenesEXOC3L2
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)dgv4288n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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