A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv114e201



Internal ID20125001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:131939148..131939336hg38UCSC Ensembl
chr10:133752652..133752840hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743588, esv2743587
SamplesSSM088, SSM090, SSM029, SSM089, SSM031, SSM086
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)dgv114e201
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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