A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308799



Internal ID15155748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:71811795..71811796hg38UCSC Ensembl
Innerchr8:71811751..71811840hg38UCSC Ensembl
Outerchr8:71811750..71811841hg38UCSC Ensembl
chr8:72724030..72724031hg19UCSC Ensembl
Innerchr8:72723986..72724075hg19UCSC Ensembl
Outerchr8:72723985..72724076hg19UCSC Ensembl
chr8:72886584..72886585hg18UCSC Ensembl
Innerchr8:72886629..72886540hg18UCSC Ensembl
Outerchr8:72886539..72886630hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38249
hg19249
hg18249
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837660, essv7839034
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308799
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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