A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8954890



Internal ID13842279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:123692210..123692228hg38UCSC Ensembl
Innerchr11:123692210..123692226hg38UCSC Ensembl
Outerchr11:123692192..123692244hg38UCSC Ensembl
chr11:123562918..123562936hg19UCSC Ensembl
Innerchr11:123562918..123562934hg19UCSC Ensembl
Outerchr11:123562900..123562952hg19UCSC Ensembl
chr11:123068128..123068146hg18UCSC Ensembl
Innerchr11:123068144..123068128hg18UCSC Ensembl
Outerchr11:123068110..123068162hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445905
Supporting Variants
SamplesNA18510
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8954890
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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