A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5013n152



Internal ID22820716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224422076..224431030hg38UCSC Ensembl
chr2:225286793..225295747hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg388955
hg198955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3194050, nsv3197367
SamplesNA19239, HG00732, HG00514
Known Genes
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)dgv5013n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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