A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4318n223



Internal ID22807286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235326054..235677919hg38UCSC Ensembl
chr2:236234698..236586563hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38351866
hg19351866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6352540, nsv6340494
Samples
Known GenesAGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4318n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer