A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744000



Internal ID9978284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2299654..2300017hg38UCSC Ensembl
Outerchr11:2320884..2321247hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672853, essv6953032, essv6695357
SamplesSSM031, SSM037, SSM025
Known GenesC11orf21
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)esv2744000
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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