A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3452204



Internal ID14952463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91174049..91174049hg38UCSC Ensembl
Innerchr8:91174048..91174050hg38UCSC Ensembl
Outerchr8:91173989..91174099hg38UCSC Ensembl
chr8:92186277..92186277hg19UCSC Ensembl
Innerchr8:92186276..92186278hg19UCSC Ensembl
Outerchr8:92186217..92186327hg19UCSC Ensembl
chr8:92255453..92255453hg18UCSC Ensembl
Innerchr8:92255454..92255452hg18UCSC Ensembl
Outerchr8:92255393..92255503hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8842759
SamplesNA12878
Known GenesLRRC69
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3452204
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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