A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384578



Internal ID15231548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131227968..131227987hg38UCSC Ensembl
Innerchr5:131227964..131227991hg38UCSC Ensembl
Outerchr5:131227945..131228010hg38UCSC Ensembl
chr5:130563661..130563680hg19UCSC Ensembl
Innerchr5:130563657..130563684hg19UCSC Ensembl
Outerchr5:130563638..130563703hg19UCSC Ensembl
chr5:130591560..130591579hg18UCSC Ensembl
Innerchr5:130591583..130591556hg18UCSC Ensembl
Outerchr5:130591537..130591602hg18UCSC Ensembl
Cytoband5q23.3
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 Variantsessv9624425
SamplesNA12872
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384578
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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