A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397647



Internal ID15244610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126449547..126451845hg38UCSC Ensembl
Innerchr11:126450547..126450845hg38UCSC Ensembl
Outerchr11:126448547..126452845hg38UCSC Ensembl
chr11:126319442..126321740hg19UCSC Ensembl
Innerchr11:126320442..126320740hg19UCSC Ensembl
Outerchr11:126318442..126322740hg19UCSC Ensembl
chr11:125824652..125826950hg18UCSC Ensembl
Innerchr11:125825652..125825950hg18UCSC Ensembl
Outerchr11:125823652..125827950hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv717e59
Supporting Variantsessv8688199
SamplesNA19240
Known GenesKIRREL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397647
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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