A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309379



Internal ID15156329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124067665..124067666hg38UCSC Ensembl
Innerchr8:124067636..124067695hg38UCSC Ensembl
Outerchr8:124067635..124067696hg38UCSC Ensembl
chr8:125079906..125079907hg19UCSC Ensembl
Innerchr8:125079877..125079936hg19UCSC Ensembl
Outerchr8:125079876..125079937hg19UCSC Ensembl
chr8:125149087..125149088hg18UCSC Ensembl
Innerchr8:125149117..125149058hg18UCSC Ensembl
Outerchr8:125149057..125149118hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38306
hg19306
hg18306
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836710, essv7837409
SamplesNA19239, NA19240
Known GenesFER1L6, FER1L6-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309379
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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