A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344849



Internal ID14845116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31677313..31677332hg38UCSC Ensembl
Innerchr8:31677309..31677336hg38UCSC Ensembl
Outerchr8:31677290..31677355hg38UCSC Ensembl
chr8:31534829..31534848hg19UCSC Ensembl
Innerchr8:31534825..31534852hg19UCSC Ensembl
Outerchr8:31534806..31534871hg19UCSC Ensembl
chr8:31654371..31654390hg18UCSC Ensembl
Innerchr8:31654394..31654367hg18UCSC Ensembl
Outerchr8:31654348..31654413hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9638347
SamplesNA12873
Known GenesNRG1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344849
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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