A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743883



Internal ID10324853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1016657..1018490hg38UCSC Ensembl
Outerchr11:1016657..1018490hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381834
hg191834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6720499, essv6684900, essv6908660, essv6688120, essv6709328, essv6953019, essv6684899, essv6866881
SamplesSSM041, SSM089, SSM035, SSM044, SSM014, SSM025, SSM034
Known GenesMUC6
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)esv2743883
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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