A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415561



Internal ID15262520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8057742..8057761hg38UCSC Ensembl
Innerchr5:8057738..8057765hg38UCSC Ensembl
Outerchr5:8057719..8057784hg38UCSC Ensembl
chr5:8057855..8057874hg19UCSC Ensembl
Innerchr5:8057851..8057878hg19UCSC Ensembl
Outerchr5:8057832..8057897hg19UCSC Ensembl
chr5:8110855..8110874hg18UCSC Ensembl
Innerchr5:8110878..8110851hg18UCSC Ensembl
Outerchr5:8110832..8110897hg18UCSC Ensembl
Cytoband5p15.31
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 Variantsessv9620991
SamplesNA19143
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415561
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer