A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6740560



Internal ID10149286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100703341..100704508hg38UCSC Ensembl
Outerchr8:101715569..101716736hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737360
Supporting Variants
SamplesSSM052
Known GenesPABPC1
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)essv6740560
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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