A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688940



Internal ID15048723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32977014..32978112hg38UCSC Ensembl
Innerchr13:32977112..32978014hg38UCSC Ensembl
Outerchr13:32976014..32979112hg38UCSC Ensembl
chr13:33551152..33552250hg19UCSC Ensembl
Innerchr13:33551250..33552152hg19UCSC Ensembl
Outerchr13:33550152..33553250hg19UCSC Ensembl
chr13:32449152..32450250hg18UCSC Ensembl
Innerchr13:32450152..32449250hg18UCSC Ensembl
Outerchr13:32448152..32451250hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3332220
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688940
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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