A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443026



Internal ID14943293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134530556..134568062hg38UCSC Ensembl
Innerchr7:134530563..134568055hg38UCSC Ensembl
Outerchr7:134530549..134568069hg38UCSC Ensembl
chr7:134215308..134252814hg19UCSC Ensembl
Innerchr7:134215315..134252807hg19UCSC Ensembl
Outerchr7:134215301..134252821hg19UCSC Ensembl
chr7:133865848..133903354hg18UCSC Ensembl
Innerchr7:133865855..133903347hg18UCSC Ensembl
Outerchr7:133865841..133903361hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3837507
hg1937507
hg1837507
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671406, essv8671408
SamplesNA12892, NA12891
Known GenesAKR1B10, AKR1B15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443026
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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