A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401342



Internal ID15248305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112357737..112359035hg38UCSC Ensembl
Innerchr13:112358035..112358737hg38UCSC Ensembl
Outerchr13:112356737..112360035hg38UCSC Ensembl
chr13:113012051..113013349hg19UCSC Ensembl
Innerchr13:113012349..113013051hg19UCSC Ensembl
Outerchr13:113011051..113014349hg19UCSC Ensembl
chr13:112060052..112061350hg18UCSC Ensembl
Innerchr13:112061052..112060350hg18UCSC Ensembl
Outerchr13:112059052..112062350hg18UCSC 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 Variantsdgv1121e59
Supporting Variantsessv8688794
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401342
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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