A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344020



Internal ID14844287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61271704..61273202hg38UCSC Ensembl
Innerchr11:61272202..61272704hg38UCSC Ensembl
Outerchr11:61270704..61274202hg38UCSC Ensembl
chr11:61039176..61040674hg19UCSC Ensembl
Innerchr11:61039674..61040176hg19UCSC Ensembl
Outerchr11:61038176..61041674hg19UCSC Ensembl
chr11:60795752..60797250hg18UCSC Ensembl
Innerchr11:60796752..60796250hg18UCSC Ensembl
Outerchr11:60794752..60798250hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688473
SamplesNA19240
Known GenesVWCE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344020
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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