A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv143e201



Internal ID22759501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67894911..67895185hg38UCSC Ensembl
chr11:67662382..67662656hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2744656, esv2744654
SamplesSSM008, SSM027, SSM065, SSM087, SSM073, SSM093, SSM074, SSM042, SSM028, SSM092, SSM026, SSM031, SSM086, SSM016, SSM080, SSM077, SSM076, SSM004
Known Genes
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)dgv143e201
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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