A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553027



Internal ID18407417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3868285..3868492hg38UCSC Ensembl
Outerchr16:3868247..3868530hg38UCSC Ensembl
Innerchr16:3918286..3918493hg19UCSC Ensembl
Outerchr16:3918248..3918531hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751774
Samples
Known GenesCREBBP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553027
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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