A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3355757



Internal ID15202738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111974537..111975835hg38UCSC Ensembl
Innerchr13:111974835..111975537hg38UCSC Ensembl
Outerchr13:111973537..111976835hg38UCSC Ensembl
chr13:112628851..112630149hg19UCSC Ensembl
Innerchr13:112629149..112629851hg19UCSC Ensembl
Outerchr13:112627851..112631149hg19UCSC Ensembl
chr13:111676852..111678150hg18UCSC Ensembl
Innerchr13:111677852..111677150hg18UCSC Ensembl
Outerchr13:111675852..111679150hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1117e59
Supporting Variantsessv8688772
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3355757
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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