A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543264



Internal ID18744340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27147523..27147751hg38UCSC Ensembl
Outerchr8:27147468..27147755hg38UCSC Ensembl
Innerchr8:27005040..27005268hg19UCSC Ensembl
Outerchr8:27004985..27005272hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742011
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543264
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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