A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688965



Internal ID15049019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45687116..45689314hg38UCSC Ensembl
Innerchr13:45688116..45688314hg38UCSC Ensembl
Outerchr13:45686116..45690314hg38UCSC Ensembl
chr13:46261251..46263449hg19UCSC Ensembl
Innerchr13:46262251..46262449hg19UCSC Ensembl
Outerchr13:46260251..46264449hg19UCSC Ensembl
chr13:45159252..45161450hg18UCSC Ensembl
Innerchr13:45160252..45160450hg18UCSC Ensembl
Outerchr13:45158252..45162450hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3438161
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688965
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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