A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745278



Internal ID9979562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:132069358..132071337hg38UCSC Ensembl
Outerchr11:131939252..131941231hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381980
hg191980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944877, essv6977071, essv6916068, essv6787704, essv6965695, essv6953165, essv6834836
SamplesSSM027, SSM082, SSM025, SSM016, SSM029, SSM069, SSM023
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)esv2745278
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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