A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740716



Internal ID15082716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121236945..121236948hg38UCSC Ensembl
Innerchr11:121236944..121236949hg38UCSC Ensembl
Outerchr11:121236895..121236998hg38UCSC Ensembl
chr11:121107654..121107657hg19UCSC Ensembl
Innerchr11:121107653..121107658hg19UCSC Ensembl
Outerchr11:121107604..121107707hg19UCSC Ensembl
chr11:120612864..120612867hg18UCSC Ensembl
Innerchr11:120612868..120612863hg18UCSC Ensembl
Outerchr11:120612814..120612917hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38357
hg19357
hg18357
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3391679
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740716
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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