A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13156571



Internal ID3158387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32384931..32390570hg38UCSC Ensembl
Innerchr8:32384940..32390562hg38UCSC Ensembl
Outerchr8:32384923..32390579hg38UCSC Ensembl
chr8:32242447..32248086hg19UCSC Ensembl
Innerchr8:32242456..32248078hg19UCSC Ensembl
Outerchr8:32242439..32248095hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg385640
hg195640
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616809
Supporting Variants
SamplesNA18959
Known GenesNRG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13156571
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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