A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410016



Internal ID15256976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26027564..26027564hg38UCSC Ensembl
Innerchr8:26027563..26027565hg38UCSC Ensembl
Outerchr8:26027514..26027614hg38UCSC Ensembl
chr8:25885080..25885080hg19UCSC Ensembl
Innerchr8:25885079..25885081hg19UCSC Ensembl
Outerchr8:25885030..25885130hg19UCSC Ensembl
chr8:25940997..25940997hg18UCSC Ensembl
Innerchr8:25940998..25940996hg18UCSC Ensembl
Outerchr8:25940947..25941047hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701522
SamplesNA12878
Known GenesEBF2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410016
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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