A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553287



Internal ID18407677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27325338..27339679hg38UCSC Ensembl
Outerchr16:27324680..27341801hg38UCSC Ensembl
Innerchr16:27336659..27351000hg19UCSC Ensembl
Outerchr16:27336001..27353122hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3817122
hg1917122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752034
Samples
Known GenesIL4R
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553287
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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