A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750403



Internal ID10331373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3469159..3469437hg38UCSC Ensembl
Outerchr16:3519159..3519437hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv325e201
Supporting Variantsessv6960087, essv6706622, essv6932355, essv6717269, essv6879815, essv6803834, essv6809748, essv6815850, essv6928312, essv6916547, essv6772552, essv6741831
SamplesSSM075, SSM065, SSM073, SSM093, SSM026, SSM019, SSM040, SSM020, SSM007, SSM016, SSM077, SSM043
Known GenesNAA60
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)esv2750403
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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