A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6824052



Internal ID10225129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:71593126..71593454hg38UCSC Ensembl
Outerchr15:71885465..71885793hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749851
Supporting Variants
SamplesSSM079
Known GenesTHSD4
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)essv6824052
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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