A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6824137



Internal ID10225206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46389462..46390596hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg191135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714354, esv2714350, esv2714347, esv2714356, esv2714345, esv2714349, esv2714343
Supporting Variants
SamplesSSM079
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)essv6824137
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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