A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv128e201



Internal ID20125015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1411613..1412290hg38UCSC Ensembl
chr11:1432843..1433520hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743917, esv2743921
SamplesSSM065, SSM097, SSM073, SSM084, SSM047, SSM061, SSM082, SSM077, SSM025
Known GenesBRSK2
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)dgv128e201
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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