A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6809921



Internal ID9657480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1507663..1507927hg38UCSC Ensembl
Outerchr16:1557664..1557928hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750345
Supporting Variants
SamplesSSM009
Known GenesTELO2
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)essv6809921
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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