A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443958



Internal ID15290911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94704820..94704820hg38UCSC Ensembl
Innerchr5:94704819..94704821hg38UCSC Ensembl
Outerchr5:94704770..94704870hg38UCSC Ensembl
chr5:94040525..94040525hg19UCSC Ensembl
Innerchr5:94040524..94040526hg19UCSC Ensembl
Outerchr5:94040475..94040575hg19UCSC Ensembl
chr5:94066281..94066281hg18UCSC Ensembl
Innerchr5:94066282..94066280hg18UCSC Ensembl
Outerchr5:94066231..94066331hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701473
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443958
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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