A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364781



Internal ID15211758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8340884..8340903hg38UCSC Ensembl
Innerchr5:8340880..8340907hg38UCSC Ensembl
Outerchr5:8340861..8340926hg38UCSC Ensembl
chr5:8340997..8341016hg19UCSC Ensembl
Innerchr5:8340993..8341020hg19UCSC Ensembl
Outerchr5:8340974..8341039hg19UCSC Ensembl
chr5:8393997..8394016hg18UCSC Ensembl
Innerchr5:8394020..8393993hg18UCSC Ensembl
Outerchr5:8393974..8394039hg18UCSC Ensembl
Cytoband5p15.2
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 Variantsessv9621004, essv9621015
SamplesNA19141, NA19143
Known GenesLOC729506
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364781
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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