A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553854



Internal ID18408244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87855709..87859808hg38UCSC Ensembl
Outerchr16:87855696..87859835hg38UCSC Ensembl
Innerchr16:87889315..87893414hg19UCSC Ensembl
Outerchr16:87889302..87893441hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg384140
hg194140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752601
Samples
Known GenesSLC7A5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553854
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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