A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6945428



Internal ID9703121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:69300630..69300936hg38UCSC Ensembl
Outerchr15:69592969..69593275hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749825
Supporting Variants
SamplesSSM023
Known GenesPAQR5
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)essv6945428
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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