A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714464



Internal ID3264960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:50754975..50755166hg38UCSC Ensembl
Outerchr16:50788886..50789077hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682093, essv6674074, essv6776227, essv6732695, essv6943350
SamplesSSM033, SSM031, SSM066, SSM003, SSM047
Known GenesCYLD
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)esv2714464
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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