A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307037



Internal ID14807299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77750118..77750119hg38UCSC Ensembl
Innerchr9:77750088..77750149hg38UCSC Ensembl
Outerchr9:77750087..77750150hg38UCSC Ensembl
chr9:80365034..80365035hg19UCSC Ensembl
Innerchr9:80365004..80365065hg19UCSC Ensembl
Outerchr9:80365003..80365066hg19UCSC Ensembl
chr9:79554854..79554855hg18UCSC Ensembl
Innerchr9:79554885..79554824hg18UCSC Ensembl
Outerchr9:79554823..79554886hg18UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749656, essv7755060, essv7762146, essv7744871, essv7760355, essv7742274, essv7744092, essv7753295, essv7747019, essv7742500, essv7755492, essv7755874
SamplesNA18520, NA18523, NA19114, NA19093, NA18489, NA19108, NA19190, NA19102, NA18510, NA19116, NA19099, NA18519
Known GenesGNAQ
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307037
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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