A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310547



Internal ID14810812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:133353823..133354861hg38UCSC Ensembl
Outerchr11:133353823..133354861hg38UCSC Ensembl
Innerchr11:133223718..133224756hg19UCSC Ensembl
Outerchr11:133223718..133224756hg19UCSC Ensembl
Innerchr11:132729966..132728928hg18UCSC Ensembl
Outerchr11:132728928..132729966hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381525
hg191525
hg181525
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843520
SamplesNA19240
Known GenesOPCML
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310547
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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