A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426124



Internal ID15273081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111517806..111518254hg38UCSC Ensembl
Innerchr13:111517806..111518254hg38UCSC Ensembl
Outerchr13:111517546..111518553hg38UCSC Ensembl
chr13:112170153..112170601hg19UCSC Ensembl
Innerchr13:112170153..112170601hg19UCSC Ensembl
Outerchr13:112169893..112170900hg19UCSC Ensembl
chr13:110968154..110968602hg18UCSC Ensembl
Innerchr13:110968154..110968602hg18UCSC Ensembl
Outerchr13:110967894..110968901hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38449
hg19449
hg18449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651867
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426124
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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