A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971347



Internal ID9727269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24049196..24049726hg38UCSC Ensembl
Outerchr16:24060517..24061047hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714101
Supporting Variants
SamplesSSM028
Known GenesPRKCB
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)essv6971347
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