A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743895



Internal ID10324865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1088338..1089071hg38UCSC Ensembl
Outerchr11:1086327..1087007hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38734
hg19681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e201
Supporting Variantsessv6749532, essv6935917, essv6791658, essv6866883, essv6736898
SamplesSSM021, SSM089, SSM007, SSM070, SSM056
Known GenesMUC2
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)esv2743895
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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