A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13549492



Internal ID3551308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:88877891..89641453hg38UCSC Ensembl
Innerchr9:88878041..89641303hg38UCSC Ensembl
Outerchr9:88877741..89641603hg38UCSC Ensembl
chr9:91492806..92256368hg19UCSC Ensembl
Innerchr9:91492956..92256218hg19UCSC Ensembl
Outerchr9:91492656..92256518hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg38763563
hg19763563
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621014
Supporting Variants
SamplesHG01602
Known GenesC9orf47, CKS2, GADD45G, MIR3153, S1PR3, SECISBP2, SEMA4D, SHC3, UNQ6494
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13549492
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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