A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553298



Internal ID18754374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28598391..28610098hg38UCSC Ensembl
Outerchr16:28597180..28611547hg38UCSC Ensembl
Innerchr16:28609712..28621419hg19UCSC Ensembl
Outerchr16:28608501..28622868hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3814368
hg1914368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752045
Samples
Known GenesSULT1A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553298
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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