A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9672857



Internal ID13020174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7027208..7027227hg38UCSC Ensembl
Innerchr17:7027204..7027231hg38UCSC Ensembl
Outerchr17:7027185..7027250hg38UCSC Ensembl
chr17:6930527..6930546hg19UCSC Ensembl
Innerchr17:6930523..6930550hg19UCSC Ensembl
Outerchr17:6930504..6930569hg19UCSC Ensembl
chr17:6871251..6871270hg18UCSC Ensembl
Innerchr17:6871274..6871247hg18UCSC Ensembl
Outerchr17:6871228..6871293hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451987
Supporting Variants
SamplesNA12045
Known GenesBCL6B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9672857
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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