A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6932582



Internal ID9691619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8884861..8885264hg38UCSC Ensembl
Outerchr17:8788178..8788581hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715621
Supporting Variants
SamplesSSM020
Known GenesPIK3R5
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)essv6932582
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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