A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738197



Internal ID13028218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:62143128..62143129hg38UCSC Ensembl
Outerchr11:62142962..62143296hg38UCSC Ensembl
Innerchr11:61910600..61910601hg19UCSC Ensembl
Outerchr11:61910434..61910768hg19UCSC Ensembl
Innerchr11:61667177..61667176hg18UCSC Ensembl
Outerchr11:61667010..61667344hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38335
hg19335
hg18335
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302750
Supporting Variants
SamplesNA07037
Known GenesINCENP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738197
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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