A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13156525



Internal ID3158341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31790854..31793270hg38UCSC Ensembl
Innerchr8:31790854..31793270hg38UCSC Ensembl
Outerchr8:31790813..31793471hg38UCSC Ensembl
chr8:31648370..31650786hg19UCSC Ensembl
Innerchr8:31648370..31650786hg19UCSC Ensembl
Outerchr8:31648329..31650987hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382417
hg192417
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616803
Supporting Variants
SamplesNA12342
Known GenesNRG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13156525
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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