A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745144



Internal ID9979428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120217772..120218447hg38UCSC Ensembl
Outerchr11:120088480..120089156hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38676
hg19677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695475, essv6771989, essv6787695, essv6959160, essv6673061
SamplesSSM065, SSM069, SSM026, SSM031, SSM037
Known GenesOAF
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)esv2745144
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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