A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9670946



Internal ID13259273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:17254913..17254932hg38UCSC Ensembl
Innerchr16:17254909..17254936hg38UCSC Ensembl
Outerchr16:17254890..17254955hg38UCSC Ensembl
chr16:17348770..17348789hg19UCSC Ensembl
Innerchr16:17348766..17348793hg19UCSC Ensembl
Outerchr16:17348747..17348812hg19UCSC Ensembl
chr16:17256271..17256290hg18UCSC Ensembl
Innerchr16:17256294..17256267hg18UCSC Ensembl
Outerchr16:17256248..17256313hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3393881
Supporting Variants
SamplesNA12815
Known GenesXYLT1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9670946
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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