A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7769517



Internal ID14910959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8340878..8340879hg38UCSC Ensembl
Innerchr5:8340856..8340901hg38UCSC Ensembl
Outerchr5:8340855..8340902hg38UCSC Ensembl
chr5:8340991..8340992hg19UCSC Ensembl
Innerchr5:8340969..8341014hg19UCSC Ensembl
Outerchr5:8340968..8341015hg19UCSC Ensembl
chr5:8393991..8393992hg18UCSC Ensembl
Innerchr5:8394014..8393969hg18UCSC Ensembl
Outerchr5:8393968..8394015hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304681
Supporting Variants
SamplesNA19141
Known GenesLOC729506
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7769517
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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