A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439313



Internal ID15286266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101737007..101737026hg38UCSC Ensembl
Innerchr13:101737003..101737030hg38UCSC Ensembl
Outerchr13:101736984..101737049hg38UCSC Ensembl
chr13:102389357..102389376hg19UCSC Ensembl
Innerchr13:102389353..102389380hg19UCSC Ensembl
Outerchr13:102389334..102389399hg19UCSC Ensembl
chr13:101187358..101187377hg18UCSC Ensembl
Innerchr13:101187381..101187354hg18UCSC Ensembl
Outerchr13:101187335..101187400hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9663769, essv9663825, essv9663803, essv9663814, essv9663792, essv9663781
SamplesNA12814, NA12287, NA12815, NA12872, NA12234, NA11881
Known GenesFGF14
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439313
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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