A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3361985



Internal ID15208963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129889651..129889670hg38UCSC Ensembl
Innerchr11:129889647..129889674hg38UCSC Ensembl
Outerchr11:129889628..129889693hg38UCSC Ensembl
chr11:129759546..129759565hg19UCSC Ensembl
Innerchr11:129759542..129759569hg19UCSC Ensembl
Outerchr11:129759523..129759588hg19UCSC Ensembl
chr11:129264756..129264775hg18UCSC Ensembl
Innerchr11:129264779..129264752hg18UCSC Ensembl
Outerchr11:129264733..129264798hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9654769, essv9654792, essv9654803, essv9654781
SamplesNA12287, NA12815, NA12234, NA12874
Known GenesNFRKB
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3361985
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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