A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9679091



Internal ID13450113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43323453..43323472hg38UCSC Ensembl
Innerchr20:43323449..43323476hg38UCSC Ensembl
Outerchr20:43323430..43323495hg38UCSC Ensembl
chr20:41952093..41952112hg19UCSC Ensembl
Innerchr20:41952089..41952116hg19UCSC Ensembl
Outerchr20:41952070..41952135hg19UCSC Ensembl
chr20:41385507..41385526hg18UCSC Ensembl
Innerchr20:41385530..41385503hg18UCSC Ensembl
Outerchr20:41385484..41385549hg18UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3378497
Supporting Variants
SamplesNA12287
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9679091
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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