A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345553



Internal ID15192537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35761115..35763913hg38UCSC Ensembl
Innerchr13:35762115..35762913hg38UCSC Ensembl
Outerchr13:35760115..35764913hg38UCSC Ensembl
chr13:36335252..36338050hg19UCSC Ensembl
Innerchr13:36336252..36337050hg19UCSC Ensembl
Outerchr13:36334252..36339050hg19UCSC Ensembl
chr13:35233252..35236050hg18UCSC Ensembl
Innerchr13:35234252..35235050hg18UCSC Ensembl
Outerchr13:35232252..35237050hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688943
SamplesNA19240
Known GenesMIR548F5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345553
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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