A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424503



Internal ID15271460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132297456..132298584hg38UCSC Ensembl
Innerchr8:132297516..132298515hg38UCSC Ensembl
Outerchr8:132297366..132298625hg38UCSC Ensembl
chr8:133309703..133310831hg19UCSC Ensembl
Innerchr8:133309763..133310762hg19UCSC Ensembl
Outerchr8:133309613..133310872hg19UCSC Ensembl
chr8:133378885..133380013hg18UCSC Ensembl
Innerchr8:133378945..133379944hg18UCSC Ensembl
Outerchr8:133378795..133380054hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381129
hg191129
hg181129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8700981
SamplesNA12878
Known GenesKCNQ3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424503
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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