A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927877



Internal ID9690487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:132688684..132688974hg38UCSC Ensembl
Outerchr11:132558579..132558869hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745287
Supporting Variants
SamplesSSM019
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)essv6927877
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