A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714170



Internal ID9948454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28596798..28611002hg38UCSC Ensembl
Outerchr16:28608119..28622323hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3814205
hg1914205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803856, essv6895092
SamplesSSM073, SSM098
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)esv2714170
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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