A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688846



Internal ID14739128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113795120..113796718hg38UCSC Ensembl
Innerchr13:113795718..113796120hg38UCSC Ensembl
Outerchr13:113794120..113797718hg38UCSC Ensembl
chr13:114498093..114499691hg19UCSC Ensembl
Innerchr13:114498691..114499093hg19UCSC Ensembl
Outerchr13:114497093..114500691hg19UCSC Ensembl
chr13:113614252..113615850hg18UCSC Ensembl
Innerchr13:113615252..113614850hg18UCSC Ensembl
Outerchr13:113613252..113616850hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366973
Supporting Variants
SamplesNA19240
Known GenesTMEM255B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688846
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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