A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381880



Internal ID15228852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111974537..111975735hg38UCSC Ensembl
Innerchr13:111974735..111975537hg38UCSC Ensembl
Outerchr13:111973537..111976735hg38UCSC Ensembl
chr13:112628851..112630049hg19UCSC Ensembl
Innerchr13:112629049..112629851hg19UCSC Ensembl
Outerchr13:112627851..112631049hg19UCSC Ensembl
chr13:111676852..111678050hg18UCSC Ensembl
Innerchr13:111677852..111677050hg18UCSC Ensembl
Outerchr13:111675852..111679050hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1117e59
Supporting Variantsessv8688771
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381880
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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