A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681473



Internal ID9750938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68515367..68644298hg38UCSC Ensembl
Outerchr11:68282835..68411766hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38128932
hg19128932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744662
Supporting Variants
SamplesSSM033
Known GenesPPP6R3
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)essv6681473
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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