A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9654803



Internal ID13451307
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 StatusS
Merged Variantsesv3361985
Supporting Variants
SamplesNA12287
Known GenesNFRKB
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9654803
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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