A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653593



Internal ID15065620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86404582..86404582hg38UCSC Ensembl
Innerchr8:86404581..86404583hg38UCSC Ensembl
Outerchr8:86404532..86404632hg38UCSC Ensembl
chr8:87416811..87416811hg19UCSC Ensembl
Innerchr8:87416810..87416812hg19UCSC Ensembl
Outerchr8:87416761..87416861hg19UCSC Ensembl
chr8:87485927..87485927hg18UCSC Ensembl
Innerchr8:87485928..87485926hg18UCSC Ensembl
Outerchr8:87485877..87485977hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381655
hg191655
hg181655
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3429661
Supporting Variants
SamplesNA19239
Known GenesWWP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653593
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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