A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441306



Internal ID15288259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113540936..113542634hg38UCSC Ensembl
Innerchr13:113541634..113541936hg38UCSC Ensembl
Outerchr13:113539936..113543634hg38UCSC Ensembl
chr13:114195251..114196949hg19UCSC Ensembl
Innerchr13:114195949..114196251hg19UCSC Ensembl
Outerchr13:114194251..114197949hg19UCSC Ensembl
chr13:113243252..113244950hg18UCSC Ensembl
Innerchr13:113244252..113243950hg18UCSC Ensembl
Outerchr13:113242252..113245950hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688832
SamplesNA19240
Known GenesTMCO3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441306
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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