A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4540n152



Internal ID22820243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31823409..31825448hg38UCSC Ensembl
chr2:32048478..32050517hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg382040
hg192040
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3179243, nsv3181004, nsv3178162
SamplesNA19240, HG00733, 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)dgv4540n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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