A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715182



Internal ID9949468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89613666..89614329hg38UCSC Ensembl
Outerchr16:89680074..89680737hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38664
hg19664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828323, essv6776290, essv6839263, essv6792503, essv6703089, essv6696206, essv6960311, essv6932542, essv6725106, essv6800897, essv6788407, essv6928455
SamplesSSM083, SSM045, SSM039, SSM069, SSM026, SSM019, SSM066, SSM072, SSM020, SSM080, SSM037, SSM070
Known GenesDPEP1
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)esv2715182
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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