A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304681



Internal ID15151629
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 StatusM
Merged Variants
Supporting Variantsessv7763588, essv7769517
SamplesNA19141, NA19143
Known GenesLOC729506
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304681
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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