A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6809206



Internal ID9864005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:131938953..131939655hg38UCSC Ensembl
Outerchr10:133752457..133753159hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743584
Supporting Variants
SamplesSSM075
Known GenesPPP2R2D
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)essv6809206
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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