A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398368



Internal ID14898645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126276268..126276285hg38UCSC Ensembl
Innerchr11:126276267..126276286hg38UCSC Ensembl
Outerchr11:126276158..126276405hg38UCSC Ensembl
chr11:126146163..126146180hg19UCSC Ensembl
Innerchr11:126146162..126146181hg19UCSC Ensembl
Outerchr11:126146053..126146300hg19UCSC Ensembl
chr11:125651373..125651390hg18UCSC Ensembl
Innerchr11:125651391..125651372hg18UCSC Ensembl
Outerchr11:125651263..125651510hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38649
hg19649
hg18649
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808552
SamplesNA12878
Known GenesFOXRED1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398368
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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