A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688944



Internal ID15048829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35761215..35763113hg38UCSC Ensembl
Innerchr13:35762113..35762215hg38UCSC Ensembl
Outerchr13:35760215..35764113hg38UCSC Ensembl
chr13:36335352..36337250hg19UCSC Ensembl
Innerchr13:36336250..36336352hg19UCSC Ensembl
Outerchr13:36334352..36338250hg19UCSC Ensembl
chr13:35233352..35235250hg18UCSC Ensembl
Innerchr13:35234352..35234250hg18UCSC Ensembl
Outerchr13:35232352..35236250hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3340390
Supporting Variants
SamplesNA19239
Known GenesMIR548F5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688944
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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