A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8940525



Internal ID14173002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:75405722..75405748hg38UCSC Ensembl
Innerchr8:75405730..75405738hg38UCSC Ensembl
Outerchr8:75405704..75405764hg38UCSC Ensembl
chr8:76317957..76317983hg19UCSC Ensembl
Innerchr8:76317965..76317973hg19UCSC Ensembl
Outerchr8:76317939..76317999hg19UCSC Ensembl
chr8:76480512..76480538hg18UCSC Ensembl
Innerchr8:76480528..76480520hg18UCSC Ensembl
Outerchr8:76480494..76480554hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3438843
Supporting Variants
SamplesNA18572
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8940525
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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