A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690482



Internal ID14711681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88933243..88933841hg38UCSC Ensembl
Innerchr16:88933242..88933842hg38UCSC Ensembl
Outerchr16:88932243..88934841hg38UCSC Ensembl
chr16:88999651..89000249hg19UCSC Ensembl
Innerchr16:88999650..89000250hg19UCSC Ensembl
Outerchr16:88998651..89001249hg19UCSC Ensembl
chr16:87527152..87527750hg18UCSC Ensembl
Innerchr16:87527751..87527151hg18UCSC Ensembl
Outerchr16:87526152..87528750hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432004
Supporting Variants
SamplesNA19239
Known GenesCBFA2T3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690482
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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