A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695086



Internal ID15050659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163665130..163665928hg38UCSC Ensembl
Innerchr6:163665129..163665929hg38UCSC Ensembl
Outerchr6:163664130..163666928hg38UCSC Ensembl
chr6:164086162..164086960hg19UCSC Ensembl
Innerchr6:164086161..164086961hg19UCSC Ensembl
Outerchr6:164085162..164087960hg19UCSC Ensembl
chr6:164006152..164006950hg18UCSC Ensembl
Innerchr6:164006951..164006151hg18UCSC Ensembl
Outerchr6:164005152..164007950hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432872
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695086
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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