A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745255



Internal ID9979539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:129870690..129870838hg38UCSC Ensembl
Outerchr11:129740585..129740733hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920096
SamplesSSM017
Known GenesNFRKB
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)esv2745255
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