A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4477n152



Internal ID22820180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10902609..10902857hg38UCSC Ensembl
chr2:11042735..11042983hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3282944, nsv3280061
SamplesNA19240, 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)dgv4477n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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