A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741103



Internal ID9975434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:131952212..131953922hg38UCSC Ensembl
Outerchr10:133765716..133767426hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381711
hg191711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712800
SamplesSSM042
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)esv2741103
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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