A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9752044



Internal ID18726290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28485964..28486930hg38UCSC Ensembl
Outerchr16:28485875..28486958hg38UCSC Ensembl
Innerchr16:28497285..28498251hg19UCSC Ensembl
Outerchr16:28497196..28498279hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381084
hg191084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3553297
Supporting Variants
Samples
Known GenesCLN3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9752044
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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