A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16426478



Internal ID2234222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38963350..38983387hg38UCSC Ensembl
chr22:39359355..39379392hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3820038
hg1920038
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647748
Supporting Variants
SamplesHG02008
Known GenesAPOBEC3A_B, APOBEC3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16426478
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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