A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696110



Internal ID13652923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12136834..12146132hg38UCSC Ensembl
Innerchr8:12137834..12145132hg38UCSC Ensembl
Outerchr8:12135834..12147132hg38UCSC Ensembl
chr8:11994343..12003641hg19UCSC Ensembl
Innerchr8:11995343..12002641hg19UCSC Ensembl
Outerchr8:11993343..12004641hg19UCSC Ensembl
chr8:12031752..12041050hg18UCSC Ensembl
Innerchr8:12032752..12040050hg18UCSC Ensembl
Outerchr8:12030752..12042050hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg389299
hg199299
hg189299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3447577
Supporting Variants
SamplesNA12878
Known GenesFAM66D, USP17L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696110
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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