A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6928326



Internal ID9690891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20902726..20911168hg38UCSC Ensembl
Outerchr16:20914048..20922490hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg388443
hg198443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714067
Supporting Variants
SamplesSSM019
Known GenesLYRM1
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)essv6928326
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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