A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714223



Internal ID10297859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:33336536..33492119hg38UCSC Ensembl
Outerchr16:33237777..33294586hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38155584
hg1956810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678327, essv6888392, essv6800752, essv6936694, essv6772584, essv6699094, essv6842957
SamplesSSM065, SSM038, SSM084, SSM021, SSM096, SSM032, SSM072
Known GenesTP53TG3, TP53TG3B, TP53TG3C
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)esv2714223
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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