A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306706



Internal ID15153654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124067661..124067662hg38UCSC Ensembl
Innerchr8:124067635..124067688hg38UCSC Ensembl
Outerchr8:124067634..124067689hg38UCSC Ensembl
chr8:125079902..125079903hg19UCSC Ensembl
Innerchr8:125079876..125079929hg19UCSC Ensembl
Outerchr8:125079875..125079930hg19UCSC Ensembl
chr8:125149083..125149084hg18UCSC Ensembl
Innerchr8:125149110..125149057hg18UCSC Ensembl
Outerchr8:125149056..125149111hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746028, essv7762424, essv7750175, essv7749689, essv7753220, essv7762212, essv7752917, essv7756923, essv7743795
SamplesNA18603, NA18563, NA18489, NA19239, NA18564, NA19240, NA19093, NA18505, NA18577
Known GenesFER1L6, FER1L6-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306706
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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