A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434046



Internal ID14934314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43358455..43358474hg38UCSC Ensembl
Innerchr5:43358451..43358478hg38UCSC Ensembl
Outerchr5:43358432..43358497hg38UCSC Ensembl
chr5:43358557..43358576hg19UCSC Ensembl
Innerchr5:43358553..43358580hg19UCSC Ensembl
Outerchr5:43358534..43358599hg19UCSC Ensembl
chr5:43394314..43394333hg18UCSC Ensembl
Innerchr5:43394337..43394310hg18UCSC Ensembl
Outerchr5:43394291..43394356hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9621969
SamplesNA19141
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434046
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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