A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714546



Internal ID10298182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:58119772..58120047hg38UCSC Ensembl
Outerchr16:58153676..58153951hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932481, essv6895170, essv6960231, essv6703039
SamplesSSM039, SSM026, SSM020, SSM098
Known GenesC16orf80
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2714546
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer