A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621927



Internal ID6662103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132885654..132894812hg38UCSC Ensembl
chr9:135761041..135770199hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg389159
hg199159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13638530
SamplesNA20882
Known GenesC9orf9, TSC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621927
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