A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616491



Internal ID6656687
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13128818, essv13128820, essv13128816, essv13128821, essv13128817, essv13128825, essv13128819, essv13128823, essv13128822, essv13128826, essv13128824
SamplesHG02882, HG02570, NA18853, HG03571, HG03451, NA19012, HG02010, NA19835, NA19310, NA20348, NA19351
Known GenesPDGFRL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616491
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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