A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745299



Internal ID9979583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133231774..133232158hg38UCSC Ensembl
Outerchr11:133101669..133102053hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv158e201
Supporting Variantsessv6800161, essv6931780, essv6970773, essv6795975, essv6977076, essv6834838, essv6965697
SamplesSSM071, SSM027, SSM029, SSM072, SSM082, SSM020, SSM004
Known GenesOPCML
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)esv2745299
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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