A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3408136



Internal ID15255098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139134115..139134115hg38UCSC Ensembl
Innerchr5:139134114..139134116hg38UCSC Ensembl
Outerchr5:139134065..139134165hg38UCSC Ensembl
chr5:138469804..138469804hg19UCSC Ensembl
Innerchr5:138469803..138469805hg19UCSC Ensembl
Outerchr5:138469754..138469854hg19UCSC Ensembl
chr5:138497703..138497703hg18UCSC Ensembl
Innerchr5:138497704..138497702hg18UCSC Ensembl
Outerchr5:138497653..138497753hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38580
hg19580
hg18580
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653426, essv8653427, essv8653428
SamplesNA19238, NA19239, NA19240
Known GenesSIL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3408136
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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