A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745310



Internal ID10326280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133939614..133940272hg38UCSC Ensembl
Outerchr11:133809509..133810167hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6716738, essv6831262, essv6953168, essv6876618, essv6904868, essv6768456, essv6805142, essv6686898
SamplesSSM064, SSM013, SSM009, SSM092, SSM081, SSM005, SSM025, SSM043
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)esv2745310
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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