A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342254



Internal ID14842522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113326411..113326422hg38UCSC Ensembl
Innerchr9:113326413..113326420hg38UCSC Ensembl
Outerchr9:113326409..113326424hg38UCSC Ensembl
chr9:116088691..116088702hg19UCSC Ensembl
Innerchr9:116088693..116088700hg19UCSC Ensembl
Outerchr9:116088689..116088704hg19UCSC Ensembl
chr9:115128512..115128523hg18UCSC Ensembl
Innerchr9:115128514..115128521hg18UCSC Ensembl
Outerchr9:115128510..115128525hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864969, essv7864970
SamplesNA19172, NA18522
Known GenesWDR31
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342254
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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