A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425499



Internal ID15272456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92360871..92360890hg38UCSC Ensembl
Innerchr8:92360867..92360894hg38UCSC Ensembl
Outerchr8:92360848..92360913hg38UCSC Ensembl
chr8:93373099..93373118hg19UCSC Ensembl
Innerchr8:93373095..93373122hg19UCSC Ensembl
Outerchr8:93373076..93373141hg19UCSC Ensembl
chr8:93442275..93442294hg18UCSC Ensembl
Innerchr8:93442298..93442271hg18UCSC Ensembl
Outerchr8:93442252..93442317hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9640158
SamplesNA12872
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425499
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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