A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306887



Internal ID14807149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77475028..77475029hg38UCSC Ensembl
Innerchr9:77475011..77475046hg38UCSC Ensembl
Outerchr9:77475010..77475047hg38UCSC Ensembl
chr9:80089944..80089945hg19UCSC Ensembl
Innerchr9:80089927..80089962hg19UCSC Ensembl
Outerchr9:80089926..80089963hg19UCSC Ensembl
chr9:79279764..79279765hg18UCSC Ensembl
Innerchr9:79279782..79279747hg18UCSC Ensembl
Outerchr9:79279746..79279783hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7832215, essv7832525, essv7784284, essv7778757, essv7816158, essv7774015, essv7775084, essv7806280, essv7811374, essv7818493, essv7793029
SamplesNA18871, NA11931, NA18489, NA18507, NA18505, NA19129, NA19102, NA18522, NA18504, NA19138, NA19116
Known GenesGNA14
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306887
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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