A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616807



Internal ID6657003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32112519..32119245hg38UCSC Ensembl
Innerchr8:32112556..32119209hg38UCSC Ensembl
Outerchr8:32112483..32119282hg38UCSC Ensembl
chr8:31970035..31976761hg19UCSC Ensembl
Innerchr8:31970072..31976725hg19UCSC Ensembl
Outerchr8:31969999..31976798hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg386727
hg196727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13156530
SamplesHG02840
Known GenesNRG1, NRG1-IT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616807
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer