A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6911752



Internal ID9985083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32478930..32812474hg38UCSC Ensembl
Outerchr16:32490251..32823795hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38333545
hg19333545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714208, esv2714206, esv2714204, esv2714201
Supporting Variants
SamplesSSM002
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)essv6911752
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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