A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678164



Internal ID13315412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24970584..24970603hg38UCSC Ensembl
Innerchr16:24970580..24970607hg38UCSC Ensembl
Outerchr16:24970561..24970626hg38UCSC Ensembl
chr16:24981905..24981924hg19UCSC Ensembl
Innerchr16:24981901..24981928hg19UCSC Ensembl
Outerchr16:24981882..24981947hg19UCSC Ensembl
chr16:24889406..24889425hg18UCSC Ensembl
Innerchr16:24889429..24889402hg18UCSC Ensembl
Outerchr16:24889383..24889448hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363317
Supporting Variants
SamplesNA12878
Known GenesARHGAP17
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678164
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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