A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681523



Internal ID9750982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133140735..133141279hg38UCSC Ensembl
Outerchr11:133010630..133011174hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38545
hg19545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745292
Supporting Variants
SamplesSSM033
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)essv6681523
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