A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6768455



Internal ID9827541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133140965..133141187hg38UCSC Ensembl
Outerchr11:133010860..133011082hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745294, esv2745292
Supporting Variants
SamplesSSM064
Known GenesOPCML
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)essv6768455
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