A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688206



Internal ID14732576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133901547..133902745hg38UCSC Ensembl
Innerchr11:133901745..133902547hg38UCSC Ensembl
Outerchr11:133900547..133903745hg38UCSC Ensembl
chr11:133771442..133772640hg19UCSC Ensembl
Innerchr11:133771640..133772442hg19UCSC Ensembl
Outerchr11:133770442..133773640hg19UCSC Ensembl
chr11:133276652..133277850hg18UCSC Ensembl
Innerchr11:133277652..133276850hg18UCSC Ensembl
Outerchr11:133275652..133278850hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3384459
Supporting Variants
SamplesNA19240
Known GenesMIR4697HG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688206
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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