A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380121



Internal ID14880394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3096148..3097496hg38UCSC Ensembl
Innerchr11:3096148..3097496hg38UCSC Ensembl
Outerchr11:3096065..3097620hg38UCSC Ensembl
chr11:3117378..3118726hg19UCSC Ensembl
Innerchr11:3117378..3118726hg19UCSC Ensembl
Outerchr11:3117295..3118850hg19UCSC Ensembl
chr11:3073954..3075302hg18UCSC Ensembl
Innerchr11:3073954..3075302hg18UCSC Ensembl
Outerchr11:3073871..3075426hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381349
hg191349
hg181349
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651812
SamplesNA19240
Known GenesOSBPL5
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380121
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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