A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912474



Internal ID9638323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8810117..8812049hg38UCSC Ensembl
Outerchr17:8713435..8715367hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381933
hg191933
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715619
Supporting Variants
SamplesSSM002
Known GenesPIK3R6
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)essv6912474
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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