A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688201



Internal ID15041205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126449947..126451745hg38UCSC Ensembl
Innerchr11:126450745..126450947hg38UCSC Ensembl
Outerchr11:126448947..126452745hg38UCSC Ensembl
chr11:126319842..126321640hg19UCSC Ensembl
Innerchr11:126320640..126320842hg19UCSC Ensembl
Outerchr11:126318842..126322640hg19UCSC Ensembl
chr11:125825052..125826850hg18UCSC Ensembl
Innerchr11:125826052..125825850hg18UCSC Ensembl
Outerchr11:125824052..125827850hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380656
Supporting Variants
SamplesNA19239
Known GenesKIRREL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688201
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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