A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9639546



Internal ID14912350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78888793..78888812hg38UCSC Ensembl
Innerchr8:78888789..78888816hg38UCSC Ensembl
Outerchr8:78888770..78888835hg38UCSC Ensembl
chr8:79801028..79801047hg19UCSC Ensembl
Innerchr8:79801024..79801051hg19UCSC Ensembl
Outerchr8:79801005..79801070hg19UCSC Ensembl
chr8:79963583..79963602hg18UCSC Ensembl
Innerchr8:79963606..79963579hg18UCSC Ensembl
Outerchr8:79963560..79963625hg18UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3400088
Supporting Variants
SamplesNA19143
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9639546
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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