A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6699119



Internal ID10111183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46409660..46414812hg38UCSC Ensembl
Outerchr16:46443572..46448724hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg385153
hg195153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714419, esv2714399, esv2714405, esv2714402, esv2714391, esv2714384, esv2714425, esv2714397, esv2714412, esv2714408
Supporting Variants
SamplesSSM038
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)essv6699119
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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