A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13130101



Internal ID3131917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18628594..18629612hg38UCSC Ensembl
Innerchr8:18628644..18629562hg38UCSC Ensembl
Outerchr8:18628450..18629756hg38UCSC Ensembl
chr8:18486104..18487122hg19UCSC Ensembl
Innerchr8:18486154..18487072hg19UCSC Ensembl
Outerchr8:18485960..18487266hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381019
hg191019
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616524
Supporting Variants
SamplesHG00629
Known GenesPSD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13130101
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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