A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740949



Internal ID10295065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46386904..46399940hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg1913037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv354e201
Supporting Variantsessv6692048
SamplesSSM036
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)esv2740949
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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