A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302686



Internal ID15149634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62143053..62143193hg38UCSC Ensembl
Innerchr11:62143123..62143123hg38UCSC Ensembl
Outerchr11:62142953..62143293hg38UCSC Ensembl
chr11:61910525..61910665hg19UCSC Ensembl
Innerchr11:61910595..61910595hg19UCSC Ensembl
Outerchr11:61910425..61910765hg19UCSC Ensembl
chr11:61667101..61667241hg18UCSC Ensembl
Innerchr11:61667171..61667171hg18UCSC Ensembl
Outerchr11:61667001..61667341hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38141
hg19141
hg18141
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv655e59
Supporting Variantsessv7730900, essv7731606, essv7731331
SamplesNA19238, NA19239, NA19240
Known GenesINCENP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302686
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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