A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652373



Internal ID15103229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100426439..100426936hg38UCSC Ensembl
Innerchr8:100426439..100426936hg38UCSC Ensembl
Outerchr8:100425641..100427654hg38UCSC Ensembl
chr8:101438667..101439164hg19UCSC Ensembl
Innerchr8:101438667..101439164hg19UCSC Ensembl
Outerchr8:101437869..101439882hg19UCSC Ensembl
chr8:101507843..101508340hg18UCSC Ensembl
Innerchr8:101507843..101508340hg18UCSC Ensembl
Outerchr8:101507045..101509058hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38498
hg19498
hg18498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3323792
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652373
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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