A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336418



Internal ID15183406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73074385..73074411hg38UCSC Ensembl
Innerchr13:73074397..73074397hg38UCSC Ensembl
Outerchr13:73074371..73074425hg38UCSC Ensembl
chr13:73648523..73648549hg19UCSC Ensembl
Innerchr13:73648535..73648535hg19UCSC Ensembl
Outerchr13:73648509..73648563hg19UCSC Ensembl
chr13:72546524..72546550hg18UCSC Ensembl
Innerchr13:72546536..72546536hg18UCSC Ensembl
Outerchr13:72546510..72546564hg18UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38159
hg19159
hg18159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672758
SamplesNA19238
Known GenesKLF5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336418
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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