A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9671846



Internal ID13605518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67536425..67536444hg38UCSC Ensembl
Innerchr16:67536421..67536448hg38UCSC Ensembl
Outerchr16:67536402..67536467hg38UCSC Ensembl
chr16:67570328..67570347hg19UCSC Ensembl
Innerchr16:67570324..67570351hg19UCSC Ensembl
Outerchr16:67570305..67570370hg19UCSC Ensembl
chr16:66127829..66127848hg18UCSC Ensembl
Innerchr16:66127852..66127825hg18UCSC Ensembl
Outerchr16:66127806..66127871hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329286
Supporting Variants
SamplesNA12814
Known GenesFAM65A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9671846
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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