A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749787



Internal ID9984071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:65662174..65662314hg38UCSC Ensembl
Outerchr15:65954512..65954652hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6824039
SamplesSSM079
Known GenesDENND4A
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)esv2749787
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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