A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344858



Internal ID15191842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124067670..124067682hg38UCSC Ensembl
Innerchr8:124067661..124067691hg38UCSC Ensembl
Outerchr8:124067647..124067703hg38UCSC Ensembl
chr8:125079911..125079923hg19UCSC Ensembl
Innerchr8:125079902..125079932hg19UCSC Ensembl
Outerchr8:125079888..125079944hg19UCSC Ensembl
chr8:125149092..125149104hg18UCSC Ensembl
Innerchr8:125149113..125149083hg18UCSC Ensembl
Outerchr8:125149069..125149125hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676980, essv8676981
SamplesNA19239, NA19240
Known GenesFER1L6, FER1L6-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344858
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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