A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310189



Internal ID15157140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73074396..73074397hg38UCSC Ensembl
Innerchr13:73074361..73074432hg38UCSC Ensembl
Outerchr13:73074360..73074433hg38UCSC Ensembl
chr13:73648534..73648535hg19UCSC Ensembl
Innerchr13:73648499..73648570hg19UCSC Ensembl
Outerchr13:73648498..73648571hg19UCSC Ensembl
chr13:72546535..72546536hg18UCSC Ensembl
Innerchr13:72546571..72546500hg18UCSC Ensembl
Outerchr13:72546499..72546572hg18UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837358, essv7837074
SamplesNA19239, NA19240
Known GenesKLF5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310189
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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