A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378040



Internal ID15225013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147883840..147883859hg38UCSC Ensembl
Innerchr5:147883836..147883863hg38UCSC Ensembl
Outerchr5:147883817..147883882hg38UCSC Ensembl
chr5:147263403..147263422hg19UCSC Ensembl
Innerchr5:147263399..147263426hg19UCSC Ensembl
Outerchr5:147263380..147263445hg19UCSC Ensembl
chr5:147243596..147243615hg18UCSC Ensembl
Innerchr5:147243619..147243592hg18UCSC Ensembl
Outerchr5:147243573..147243638hg18UCSC Ensembl
Cytoband5q32
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 Variantsessv9625014
SamplesNA12045
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378040
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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