A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1438n223



Internal ID22804406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18416353..18571841hg38UCSC Ensembl
chr12:18569287..18724775hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38155489
hg19155489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6475198, nsv6468241
Samples
Known GenesPIK3C2G
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1438n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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