A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744488



Internal ID9978772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:48911410..48912162hg38UCSC Ensembl
Outerchr11:48932962..48933714hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38753
hg19753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6873568
SamplesSSM091
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)esv2744488
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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