A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715867



Internal ID10299503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34838242..34838954hg38UCSC Ensembl
Outerchr17:33165261..33165973hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761439, essv6867989, essv6665814, essv6846468, essv6966909
SamplesSSM027, SSM061, SSM029, SSM089, SSM085
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)esv2715867
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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