A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv233e201



Internal ID22759591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:74987709..74988006hg38UCSC Ensembl
chr13:75561846..75562143hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2747662, esv2747665
SamplesSSM045, SSM079, SSM090, SSM031, SSM081, SSM072, SSM078, SSM034
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)dgv233e201
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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