A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688835



Internal ID15047457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113592836..113594534hg38UCSC Ensembl
Innerchr13:113593534..113593836hg38UCSC Ensembl
Outerchr13:113591836..113595534hg38UCSC Ensembl
chr13:114247151..114248849hg19UCSC Ensembl
Innerchr13:114247849..114248151hg19UCSC Ensembl
Outerchr13:114246151..114249849hg19UCSC Ensembl
chr13:113295152..113296850hg18UCSC Ensembl
Innerchr13:113296152..113295850hg18UCSC Ensembl
Outerchr13:113294152..113297850hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3390681
Supporting Variants
SamplesNA19239
Known GenesTFDP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688835
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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