A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553259



Internal ID18407649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:25218787..25219846hg38UCSC Ensembl
Outerchr16:25218652..25219944hg38UCSC Ensembl
Innerchr16:25230108..25231167hg19UCSC Ensembl
Outerchr16:25229973..25231265hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381293
hg191293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752006
Samples
Known GenesAQP8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553259
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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