A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431453



Internal ID15278409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92492288..92492294hg38UCSC Ensembl
Innerchr8:92492280..92492300hg38UCSC Ensembl
Outerchr8:92492276..92492306hg38UCSC Ensembl
chr8:93504516..93504522hg19UCSC Ensembl
Innerchr8:93504508..93504528hg19UCSC Ensembl
Outerchr8:93504504..93504534hg19UCSC Ensembl
chr8:93573692..93573698hg18UCSC Ensembl
Innerchr8:93573704..93573684hg18UCSC Ensembl
Outerchr8:93573680..93573710hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677233, essv8677232
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431453
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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