A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302446



Internal ID14802707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114173216..114173462hg38UCSC Ensembl
Innerchr9:114173316..114173362hg38UCSC Ensembl
Outerchr9:114173116..114173562hg38UCSC Ensembl
chr9:116935496..116935742hg19UCSC Ensembl
Innerchr9:116935596..116935642hg19UCSC Ensembl
Outerchr9:116935396..116935842hg19UCSC Ensembl
chr9:115975317..115975563hg18UCSC Ensembl
Innerchr9:115975417..115975463hg18UCSC Ensembl
Outerchr9:115975217..115975663hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731600, essv7731229
SamplesNA19239, NA19240
Known GenesCOL27A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302446
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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