A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3371312



Internal ID15218288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58993883..58993897hg38UCSC Ensembl
Innerchr8:58993876..58993901hg38UCSC Ensembl
Outerchr8:58993862..58993915hg38UCSC Ensembl
chr8:59906442..59906456hg19UCSC Ensembl
Innerchr8:59906435..59906460hg19UCSC Ensembl
Outerchr8:59906421..59906474hg19UCSC Ensembl
chr8:60068996..60069010hg18UCSC Ensembl
Innerchr8:60069014..60068989hg18UCSC Ensembl
Outerchr8:60068975..60069028hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8940073, essv8940046, essv8940060, essv8940051, essv8940059, essv8940057, essv8940050, essv8940052, essv8940053, essv8940068, essv8940049, essv8940070, essv8940064, essv8940054, essv8940056, essv8940065, essv8940066, essv8940048, essv8940061, essv8940072, essv8940055, essv8940067, essv8940062, essv8940063, essv8940071, essv8940045
SamplesNA18502, NA11995, NA18980, NA18959, NA18526, NA12750, NA07357, NA19005, NA18940, NA18550, NA18558, NA18547, NA18916, NA18571, NA18964, NA18572, NA18856, NA18555, NA18570, NA18593, NA18945, NA18576, NA11881, NA18564, NA12763, NA19093
Known GenesTOX
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3371312
Frequency
Sample Size185
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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