A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6831248



Internal ID10231605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:112254933..112255041hg38UCSC Ensembl
Outerchr11:112125656..112125764hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745078, esv2745079
Supporting Variants
SamplesSSM081
Known GenesPLET1
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)essv6831248
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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