A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417591



Internal ID15264549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62505255..62512153hg38UCSC Ensembl
Innerchr9:62506255..62511153hg38UCSC Ensembl
Outerchr9:62504255..62513153hg38UCSC Ensembl
chr9:46816556..46823454hg19UCSC Ensembl
Innerchr9:46817556..46822454hg19UCSC Ensembl
Outerchr9:46815556..46824454hg19UCSC Ensembl
chr9:46656552..46663450hg18UCSC Ensembl
Innerchr9:46657552..46662450hg18UCSC Ensembl
Outerchr9:46655552..46664450hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg386899
hg196899
hg186899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696991
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417591
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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