A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8813114



Internal ID15077474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76446367..76446367hg38UCSC Ensembl
Innerchr11:76446366..76446368hg38UCSC Ensembl
Outerchr11:76446307..76446417hg38UCSC Ensembl
chr11:76157411..76157411hg19UCSC Ensembl
Innerchr11:76157410..76157412hg19UCSC Ensembl
Outerchr11:76157351..76157461hg19UCSC Ensembl
chr11:75835059..75835059hg18UCSC Ensembl
Innerchr11:75835060..75835058hg18UCSC Ensembl
Outerchr11:75834999..75835109hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3352000
Supporting Variants
SamplesNA19240
Known GenesC11orf30
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8813114
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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