A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6920847



Internal ID9684353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89196151..89196582hg38UCSC Ensembl
Outerchr16:89262559..89262990hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715127
Supporting Variants
SamplesSSM017
Known GenesSLC22A31
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)essv6920847
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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