A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543228



Internal ID18397618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:23549789..23550294hg38UCSC Ensembl
Outerchr8:23549686..23550355hg38UCSC Ensembl
Innerchr8:23407302..23407807hg19UCSC Ensembl
Outerchr8:23407199..23407868hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38670
hg19670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741975
Samples
Known GenesSLC25A37
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543228
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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