A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390500



Internal ID14890781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31712257..31712286hg38UCSC Ensembl
Innerchr8:31712212..31712331hg38UCSC Ensembl
Outerchr8:31712183..31712360hg38UCSC Ensembl
chr8:31569773..31569802hg19UCSC Ensembl
Innerchr8:31569728..31569847hg19UCSC Ensembl
Outerchr8:31569699..31569876hg19UCSC Ensembl
chr8:31689315..31689344hg18UCSC Ensembl
Innerchr8:31689389..31689270hg18UCSC Ensembl
Outerchr8:31689241..31689418hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864831, essv7864830
SamplesNA18516, NA18853
Known GenesNRG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390500
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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