A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13638530



Internal ID3640346
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621927
Supporting Variants
SamplesNA20882
Known GenesC9orf9, TSC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13638530
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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