A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv126e201



Internal ID22759484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1078504..1081339hg38UCSC Ensembl
chr11:1078648..1079493hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382836
hg19846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743892, esv2743890
SamplesSSM083, SSM024, SSM065, SSM042, SSM084, SSM035, SSM044, SSM066, SSM068, SSM080, SSM077, SSM034, SSM043
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)dgv126e201
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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