A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714430



Internal ID10298066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46463971..46464048hg38UCSC Ensembl
Outerchr16:46497883..46497960hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960209
SamplesSSM026
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)esv2714430
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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