A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749879



Internal ID10330849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:74413029..74413191hg38UCSC Ensembl
Outerchr15:74705370..74705532hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6681965
SamplesSSM033
Known GenesSEMA7A
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)esv2749879
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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