A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744118



Internal ID9978402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:12814588..12814966hg38UCSC Ensembl
Outerchr11:12836135..12836513hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970617, essv6720526
SamplesSSM028, SSM044
Known GenesTEAD1
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)esv2744118
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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