A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330012



Internal ID14830289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94905848..94907646hg38UCSC Ensembl
Innerchr8:94906646..94906848hg38UCSC Ensembl
Outerchr8:94904848..94908646hg38UCSC Ensembl
chr8:95918076..95919874hg19UCSC Ensembl
Innerchr8:95918874..95919076hg19UCSC Ensembl
Outerchr8:95917076..95920874hg19UCSC Ensembl
chr8:95987252..95989050hg18UCSC Ensembl
Innerchr8:95988252..95988050hg18UCSC Ensembl
Outerchr8:95986252..95990050hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696502
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330012
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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