A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381146



Internal ID15228118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:72082594..72082862hg38UCSC Ensembl
Innerchr17:72082593..72082863hg38UCSC Ensembl
Outerchr17:72082484..72082982hg38UCSC Ensembl
chr17:70078735..70079003hg19UCSC Ensembl
Innerchr17:70078734..70079004hg19UCSC Ensembl
Outerchr17:70078625..70079123hg19UCSC Ensembl
chr17:67590330..67590598hg18UCSC Ensembl
Innerchr17:67590599..67590329hg18UCSC Ensembl
Outerchr17:67590220..67590718hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808799
SamplesNA12878
Known GenesSOX9-AS1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381146
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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