A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360605



Internal ID14860867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18743777..18743790hg38UCSC Ensembl
Innerchr8:18743753..18743814hg38UCSC Ensembl
Outerchr8:18743740..18743827hg38UCSC Ensembl
chr8:18601287..18601300hg19UCSC Ensembl
Innerchr8:18601263..18601324hg19UCSC Ensembl
Outerchr8:18601250..18601337hg19UCSC Ensembl
chr8:18645567..18645580hg18UCSC Ensembl
Innerchr8:18645604..18645543hg18UCSC Ensembl
Outerchr8:18645530..18645617hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864815
SamplesNA12005
Known GenesPSD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360605
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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