A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386378



Internal ID15233347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:21153513..21155211hg38UCSC Ensembl
Innerchr13:21154211..21154513hg38UCSC Ensembl
Outerchr13:21152513..21156211hg38UCSC Ensembl
chr13:21727652..21729350hg19UCSC Ensembl
Innerchr13:21728350..21728652hg19UCSC Ensembl
Outerchr13:21726652..21730350hg19UCSC Ensembl
chr13:20625652..20627350hg18UCSC Ensembl
Innerchr13:20626652..20626350hg18UCSC Ensembl
Outerchr13:20624652..20628350hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv960e59
Supporting Variantsessv8688894
SamplesNA12878
Known GenesSKA3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386378
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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