A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543215



Internal ID18397605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22478163..22479256hg38UCSC Ensembl
Outerchr8:22478155..22479279hg38UCSC Ensembl
Innerchr8:22335676..22336769hg19UCSC Ensembl
Outerchr8:22335668..22336792hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381125
hg191125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741962
Samples
Known GenesPPP3CC
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543215
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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