A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4304n223



Internal ID22807272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229848423..230043212hg38UCSC Ensembl
chr2:230713139..230907928hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38194790
hg19194790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6341299, nsv6346452
Samples
Known GenesFBXO36, SLC16A14, TRIP12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4304n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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