A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714626



Internal ID10298262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:63630217..63649643hg38UCSC Ensembl
Outerchr16:63664121..63683547hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3819427
hg1919427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6738271
SamplesSSM050
Known Genes
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)esv2714626
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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