A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745273



Internal ID9979557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131928218..131929046hg38UCSC Ensembl
Outerchr11:131798112..131798940hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712935, essv6771997, essv6938551, essv6819638, essv6706164, essv6936067, essv6940276, essv6949034, essv6898733, essv6924278, essv6668179, essv6842380, essv6768454
SamplesSSM065, SSM022, SSM084, SSM042, SSM040, SSM078, SSM064, SSM024, SSM012, SSM003, SSM030, SSM021, SSM018
Known GenesNTM
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)esv2745273
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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