A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4082n223



Internal ID22807050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113466701..113516800hg38UCSC Ensembl
chr2:114224278..114274377hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3850100
hg1950100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6351455, nsv6338499
Samples
Known GenesCBWD2, FOXD4L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4082n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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