A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6784162



Internal ID10188976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46383533..46392136hg38UCSC Ensembl
Outerchr16:46417445..46426048hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg388604
hg198604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714393, esv2714392, esv2714391, esv2714390, esv2714387, esv2714384, esv2714389, esv2714397, esv2714395, esv2714381, esv2714382, esv2714398
Supporting Variants
SamplesSSM068
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)essv6784162
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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