A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940213



Internal ID9701109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68515378..68644347hg38UCSC Ensembl
Outerchr11:68282846..68411815hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38128970
hg19128970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744662
Supporting Variants
SamplesSSM022
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)essv6940213
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