A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745115



Internal ID10326085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:116841676..116842069hg38UCSC Ensembl
Outerchr11:116712392..116712785hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953153, essv6698709, essv6688230, essv6787693, essv6865097, essv6823566, essv6891219, essv6795964, essv6900590
SamplesSSM100, SSM071, SSM011, SSM079, SSM038, SSM097, SSM069, SSM035, SSM025
Known Genes
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)esv2745115
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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