A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745285



Internal ID9979569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:132523420..132523564hg38UCSC Ensembl
Outerchr11:132393314..132393458hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677760, essv6851089
SamplesSSM086, SSM032
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)esv2745285
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer