A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304113



Internal ID14804375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17274291..17274292hg38UCSC Ensembl
Innerchr9:17274234..17274349hg38UCSC Ensembl
Outerchr9:17274233..17274350hg38UCSC Ensembl
chr9:17274289..17274290hg19UCSC Ensembl
Innerchr9:17274232..17274347hg19UCSC Ensembl
Outerchr9:17274231..17274348hg19UCSC Ensembl
chr9:17264289..17264290hg18UCSC Ensembl
Innerchr9:17264347..17264232hg18UCSC Ensembl
Outerchr9:17264231..17264348hg18UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38179
hg19179
hg18179
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760037, essv7742189, essv7749257
SamplesNA18501, NA18856, NA18519
Known GenesCNTLN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304113
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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