A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4988n152



Internal ID22820691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216035482..216081403hg38UCSC Ensembl
chr2:216900205..216946126hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3845922
hg1945922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3197217, nsv3200883
SamplesHG00514
Known GenesPECR
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4988n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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