A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736105



Internal ID9970437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44955023..44955172hg38UCSC Ensembl
Outerchr10:45450471..45450620hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6731795
SamplesSSM047
Known GenesTMEM72-AS1
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)esv2736105
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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