A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543210



Internal ID18397600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22345483..22348024hg38UCSC Ensembl
Outerchr8:22345396..22348068hg38UCSC Ensembl
Innerchr8:22202996..22205537hg19UCSC Ensembl
Outerchr8:22202909..22205581hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382673
hg192673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741957
Samples
Known GenesPIWIL2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543210
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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