A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714441



Internal ID10298077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48917555..48917893hg38UCSC Ensembl
Outerchr16:48951466..48951804hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6747214, essv6738260, essv6744393
SamplesSSM050, SSM053, SSM055
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)esv2714441
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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