A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714787



Internal ID10298423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81669394..81669872hg38UCSC Ensembl
Outerchr16:81702999..81703477hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv373e201
Supporting Variantsessv6788369, essv6696174, essv6913188, essv6703061, essv6777177, essv6932505, essv6928432, essv6871173, essv6945615, essv6706729, essv6843057, essv6831873, essv6871142, essv6949711, essv6809838
SamplesSSM008, SSM024, SSM075, SSM011, SSM039, SSM023, SSM084, SSM090, SSM069, SSM019, SSM081, SSM040, SSM020, SSM015, SSM037
Known GenesCMIP
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)esv2714787
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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