A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444349



Internal ID15291302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33360626..33360764hg38UCSC Ensembl
Innerchr13:33360649..33360741hg38UCSC Ensembl
Outerchr13:33360603..33360787hg38UCSC Ensembl
chr13:33934763..33934901hg19UCSC Ensembl
Innerchr13:33934786..33934878hg19UCSC Ensembl
Outerchr13:33934740..33934924hg19UCSC Ensembl
chr13:32832763..32832901hg18UCSC Ensembl
Innerchr13:32832786..32832878hg18UCSC Ensembl
Outerchr13:32832740..32832924hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38139
hg19139
hg18139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670584, essv8670587, essv8670586, essv8670588
SamplesNA19238, NA19239, NA12878, NA19240
Known GenesSTARD13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444349
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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