A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960304



Internal ID9715929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89196118..89196617hg38UCSC Ensembl
Outerchr16:89262526..89263025hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715127
Supporting Variants
SamplesSSM026
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)essv6960304
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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