A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977056



Internal ID9734434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125425291..125427373hg38UCSC Ensembl
Outerchr11:125295187..125297269hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg382083
hg192083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745198
Supporting Variants
SamplesSSM029
Known GenesPKNOX2
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)essv6977056
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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