A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341263



Internal ID15188250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30996708..30996727hg38UCSC Ensembl
Innerchr16:30996704..30996731hg38UCSC Ensembl
Outerchr16:30996685..30996750hg38UCSC Ensembl
chr16:31008029..31008048hg19UCSC Ensembl
Innerchr16:31008025..31008052hg19UCSC Ensembl
Outerchr16:31008006..31008071hg19UCSC Ensembl
chr16:30915530..30915549hg18UCSC Ensembl
Innerchr16:30915553..30915526hg18UCSC Ensembl
Outerchr16:30915507..30915572hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9671147
SamplesNA12814
Known GenesSTX1B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341263
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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