A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329954



Internal ID15176940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17699984..17700078hg38UCSC Ensembl
Innerchr9:17699972..17700087hg38UCSC Ensembl
Outerchr9:17699878..17700181hg38UCSC Ensembl
chr9:17699982..17700076hg19UCSC Ensembl
Innerchr9:17699970..17700085hg19UCSC Ensembl
Outerchr9:17699876..17700179hg19UCSC Ensembl
chr9:17689982..17690076hg18UCSC Ensembl
Innerchr9:17690085..17689970hg18UCSC Ensembl
Outerchr9:17689876..17690179hg18UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677349, essv8677350
SamplesNA19239, NA19240
Known GenesSH3GL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329954
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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