A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543276



Internal ID18744352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:28486693..28487514hg38UCSC Ensembl
Outerchr8:28486488..28487546hg38UCSC Ensembl
Innerchr8:28344210..28345031hg19UCSC Ensembl
Outerchr8:28344005..28345063hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742023
Samples
Known GenesFBXO16
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543276
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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