A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745307



Internal ID10326277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133932634..133933127hg38UCSC Ensembl
Outerchr11:133802529..133803022hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6879443, essv6800162, essv6673082, essv6977078
SamplesSSM093, SSM029, SSM031, SSM072
Known GenesIGSF9B
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)esv2745307
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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