A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335971



Internal ID15182960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109293103..109295201hg38UCSC Ensembl
Innerchr13:109294103..109294201hg38UCSC Ensembl
Outerchr13:109292103..109296201hg38UCSC Ensembl
chr13:109945451..109947549hg19UCSC Ensembl
Innerchr13:109946451..109946549hg19UCSC Ensembl
Outerchr13:109944451..109948549hg19UCSC Ensembl
chr13:108743452..108745550hg18UCSC Ensembl
Innerchr13:108744452..108744550hg18UCSC Ensembl
Outerchr13:108742452..108746550hg18UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1111e59
Supporting Variantsessv8688749
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335971
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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