A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6874741



Internal ID9924064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:65798093..65798567hg38UCSC Ensembl
Outerchr1:66263776..66264250hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749318
Supporting Variants
SamplesSSM092
Known GenesPDE4B
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)essv6874741
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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