A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744540



Internal ID10325510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:56500266..56512244hg38UCSC Ensembl
Outerchr11:56267742..56279720hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3811979
hg1911979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6691486, essv6959072, essv6672956, essv6927816
SamplesSSM036, SSM026, SSM019, SSM031
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)esv2744540
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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