A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305509



Internal ID15152457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5279675..5279676hg38UCSC Ensembl
Innerchr5:5279646..5279705hg38UCSC Ensembl
Outerchr5:5279645..5279706hg38UCSC Ensembl
chr5:5279788..5279789hg19UCSC Ensembl
Innerchr5:5279759..5279818hg19UCSC Ensembl
Outerchr5:5279758..5279819hg19UCSC Ensembl
chr5:5332788..5332789hg18UCSC Ensembl
Innerchr5:5332818..5332759hg18UCSC Ensembl
Outerchr5:5332758..5332819hg18UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38105
hg19105
hg18105
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7745663, essv7753982, essv7752050, essv7741271, essv7749041, essv7762590, essv7742270, essv7757027, essv7749532, essv7752471, essv7740653, essv7756791
SamplesNA18947, NA12751, NA18519, NA12761, NA18973, NA19210, NA18853, NA18555, NA18564, NA19093, NA18609, NA12776
Known GenesADAMTS16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305509
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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