A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406245



Internal ID14906521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131491426..131491439hg38UCSC Ensembl
Innerchr11:131491421..131491444hg38UCSC Ensembl
Outerchr11:131491408..131491457hg38UCSC Ensembl
chr11:131361320..131361333hg19UCSC Ensembl
Innerchr11:131361315..131361338hg19UCSC Ensembl
Outerchr11:131361302..131361351hg19UCSC Ensembl
chr11:130866530..130866543hg18UCSC Ensembl
Innerchr11:130866548..130866525hg18UCSC Ensembl
Outerchr11:130866512..130866561hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672002, essv8672003
SamplesNA19238, NA19240
Known GenesNTM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406245
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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