A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701523



Internal ID13297816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28113476..28113476hg38UCSC Ensembl
Innerchr8:28113475..28113477hg38UCSC Ensembl
Outerchr8:28113426..28113526hg38UCSC Ensembl
chr8:27970993..27970993hg19UCSC Ensembl
Innerchr8:27970992..27970994hg19UCSC Ensembl
Outerchr8:27970943..27971043hg19UCSC Ensembl
chr8:28026912..28026912hg18UCSC Ensembl
Innerchr8:28026913..28026911hg18UCSC Ensembl
Outerchr8:28026862..28026962hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3448108
Supporting Variants
SamplesNA12878
Known GenesELP3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701523
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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