A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8954777



Internal ID13036983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116320268..116320323hg38UCSC Ensembl
Innerchr11:116320275..116320316hg38UCSC Ensembl
Outerchr11:116320220..116320371hg38UCSC Ensembl
chr11:116190985..116191040hg19UCSC Ensembl
Innerchr11:116190992..116191033hg19UCSC Ensembl
Outerchr11:116190937..116191088hg19UCSC Ensembl
chr11:115696195..115696250hg18UCSC Ensembl
Innerchr11:115696243..115696202hg18UCSC Ensembl
Outerchr11:115696147..115696298hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380328
Supporting Variants
SamplesNA07051
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8954777
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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