A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716161



Internal ID10299797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:70618892..70619189hg38UCSC Ensembl
Outerchr17:68615033..68615330hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703207
SamplesSSM039
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)esv2716161
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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