A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13168391



Internal ID5085517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:36576865..36581134hg38UCSC Ensembl
Innerchr8:36576865..36581134hg38UCSC Ensembl
Outerchr8:36576568..36581448hg38UCSC Ensembl
chr8:36434383..36438652hg19UCSC Ensembl
Innerchr8:36434383..36438652hg19UCSC Ensembl
Outerchr8:36434086..36438966hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg384270
hg194270
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616903
Supporting Variants
SamplesNA18546
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13168391
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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