A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6706150



Internal ID9772331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114554185..114561204hg38UCSC Ensembl
Outerchr11:114424907..114431926hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg387020
hg197020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745098
Supporting Variants
SamplesSSM040
Known GenesNXPE1
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)essv6706150
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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