A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731239



Internal ID9965556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3115104..3115352hg38UCSC Ensembl
Outerchr10:3157296..3157544hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86e201
Supporting Variantsessv6724148
SamplesSSM045
Known GenesPFKP
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)esv2731239
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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