A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13130959



Internal ID3132775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18913110..18916350hg38UCSC Ensembl
Innerchr8:18913122..18916339hg38UCSC Ensembl
Outerchr8:18913099..18916362hg38UCSC Ensembl
chr8:18770620..18773860hg19UCSC Ensembl
Innerchr8:18770632..18773849hg19UCSC Ensembl
Outerchr8:18770609..18773872hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg383241
hg193241
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616530
Supporting Variants
SamplesHG01344
Known GenesPSD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13130959
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer