A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8942473



Internal ID13747752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124067658..124067669hg38UCSC Ensembl
Innerchr8:124067655..124067672hg38UCSC Ensembl
Outerchr8:124067644..124067683hg38UCSC Ensembl
chr8:125079899..125079910hg19UCSC Ensembl
Innerchr8:125079896..125079913hg19UCSC Ensembl
Outerchr8:125079885..125079924hg19UCSC Ensembl
chr8:125149080..125149091hg18UCSC Ensembl
Innerchr8:125149094..125149077hg18UCSC Ensembl
Outerchr8:125149066..125149105hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359343
Supporting Variants
SamplesNA18489
Known GenesFER1L6, FER1L6-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8942473
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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