A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13130051



Internal ID3131867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18618177..18618644hg38UCSC Ensembl
Innerchr8:18618178..18618644hg38UCSC Ensembl
Outerchr8:18618177..18618645hg38UCSC Ensembl
chr8:18475687..18476154hg19UCSC Ensembl
Innerchr8:18475688..18476154hg19UCSC Ensembl
Outerchr8:18475687..18476155hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616522
Supporting Variants
SamplesHG04219
Known GenesPSD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13130051
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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