A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901779



Internal ID9665284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24852610..24853122hg38UCSC Ensembl
Outerchr16:24863931..24864443hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714116
Supporting Variants
SamplesSSM012
Known GenesSLC5A11
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)essv6901779
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