A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13128820



Internal ID3130636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17578991..17589124hg38UCSC Ensembl
Innerchr8:17578991..17589124hg38UCSC Ensembl
Outerchr8:17578760..17589309hg38UCSC Ensembl
chr8:17436500..17446633hg19UCSC Ensembl
Innerchr8:17436500..17446633hg19UCSC Ensembl
Outerchr8:17436269..17446818hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3810134
hg1910134
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616491
Supporting Variants
SamplesHG03571
Known GenesPDGFRL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13128820
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