A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652300



Internal ID15102792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6868708..6868771hg38UCSC Ensembl
Innerchr5:6868708..6868771hg38UCSC Ensembl
Outerchr5:6867606..6869965hg38UCSC Ensembl
chr5:6868821..6868884hg19UCSC Ensembl
Innerchr5:6868821..6868884hg19UCSC Ensembl
Outerchr5:6867719..6870078hg19UCSC Ensembl
chr5:6921821..6921884hg18UCSC Ensembl
Innerchr5:6921821..6921884hg18UCSC Ensembl
Outerchr5:6920719..6923078hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381444
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652300
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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