A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389636



Internal ID14889917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131680248..131682046hg38UCSC Ensembl
Innerchr11:131681046..131681248hg38UCSC Ensembl
Outerchr11:131679248..131683046hg38UCSC Ensembl
chr11:131550142..131551940hg19UCSC Ensembl
Innerchr11:131550940..131551142hg19UCSC Ensembl
Outerchr11:131549142..131552940hg19UCSC Ensembl
chr11:131055352..131057150hg18UCSC Ensembl
Innerchr11:131056352..131056150hg18UCSC Ensembl
Outerchr11:131054352..131058150hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688203
SamplesNA19238
Known GenesNTM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389636
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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