A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13156529



Internal ID3158345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32035201..32040012hg38UCSC Ensembl
Innerchr8:32035214..32039999hg38UCSC Ensembl
Outerchr8:32035188..32040025hg38UCSC Ensembl
chr8:31892717..31897528hg19UCSC Ensembl
Innerchr8:31892730..31897515hg19UCSC Ensembl
Outerchr8:31892704..31897541hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg384812
hg194812
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616806
Supporting Variants
SamplesHG02138
Known GenesNRG1, NRG1-IT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13156529
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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