A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13130100



Internal ID3131916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18625375..18626590hg38UCSC Ensembl
Innerchr8:18625380..18626586hg38UCSC Ensembl
Outerchr8:18625371..18626595hg38UCSC Ensembl
chr8:18482885..18484100hg19UCSC Ensembl
Innerchr8:18482890..18484096hg19UCSC Ensembl
Outerchr8:18482881..18484105hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381216
hg191216
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616523
Supporting Variants
SamplesNA19023
Known GenesPSD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13130100
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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