A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1200e201



Internal ID20126087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19233925..19234347hg38UCSC Ensembl
chr8:19091435..19091857hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2736715, esv2736713
SamplesSSM040, SSM078, SSM031, SSM035, SSM071, SSM016, SSM057, SSM039, SSM024, SSM045, SSM062, SSM100, SSM011, SSM066, SSM047, SSM037, SSM068, SSM004
Known GenesLOC100128993
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)dgv1200e201
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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