A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731331



Internal ID15044846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62143054..62143193hg38UCSC Ensembl
Innerchr11:62143123..62143124hg38UCSC Ensembl
Outerchr11:62142954..62143293hg38UCSC Ensembl
chr11:61910526..61910665hg19UCSC Ensembl
Innerchr11:61910595..61910596hg19UCSC Ensembl
Outerchr11:61910426..61910765hg19UCSC Ensembl
chr11:61667102..61667241hg18UCSC Ensembl
Innerchr11:61667172..61667171hg18UCSC Ensembl
Outerchr11:61667002..61667341hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38140
hg19140
hg18140
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302686
Supporting Variants
SamplesNA19239
Known GenesINCENP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731331
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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