A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448161



Internal ID15295110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55258097..55258116hg38UCSC Ensembl
Innerchr16:55258093..55258120hg38UCSC Ensembl
Outerchr16:55258074..55258139hg38UCSC Ensembl
chr16:55292009..55292028hg19UCSC Ensembl
Innerchr16:55292005..55292032hg19UCSC Ensembl
Outerchr16:55291986..55292051hg19UCSC Ensembl
chr16:53849510..53849529hg18UCSC Ensembl
Innerchr16:53849533..53849506hg18UCSC Ensembl
Outerchr16:53849487..53849552hg18UCSC Ensembl
Cytoband16q12.2
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 Variantsessv9671546
SamplesNA12872
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448161
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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