A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6803856



Internal ID9858939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28596798..28609670hg38UCSC Ensembl
Outerchr16:28608119..28620991hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3812873
hg1912873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714170
Supporting Variants
SamplesSSM073
Known GenesSULT1A1, SULT1A2
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)essv6803856
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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