A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6916028



Internal ID9680317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68515378..68644355hg38UCSC Ensembl
Outerchr11:68282846..68411823hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38128978
hg19128978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744662
Supporting Variants
SamplesSSM016
Known GenesPPP6R3
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)essv6916028
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