A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864482



Internal ID13316984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:86702456..86702463hg38UCSC Ensembl
Innerchr5:86702458..86702461hg38UCSC Ensembl
Outerchr5:86702454..86702465hg38UCSC Ensembl
chr5:85998273..85998280hg19UCSC Ensembl
Innerchr5:85998275..85998278hg19UCSC Ensembl
Outerchr5:85998271..85998282hg19UCSC Ensembl
chr5:86034029..86034036hg18UCSC Ensembl
Innerchr5:86034031..86034034hg18UCSC Ensembl
Outerchr5:86034027..86034038hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395633
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864482
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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