A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383745



Internal ID14884022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1211337..1212335hg38UCSC Ensembl
Innerchr5:1211336..1212336hg38UCSC Ensembl
Outerchr5:1210337..1213335hg38UCSC Ensembl
chr5:1211452..1212450hg19UCSC Ensembl
Innerchr5:1211451..1212451hg19UCSC Ensembl
Outerchr5:1210452..1213450hg19UCSC Ensembl
chr5:1264452..1265450hg18UCSC Ensembl
Innerchr5:1265451..1264451hg18UCSC Ensembl
Outerchr5:1263452..1266450hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196e59
Supporting Variantsessv8694567
SamplesNA19239
Known GenesSLC6A19
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383745
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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