A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6887545



Internal ID10282448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100703343..100704931hg38UCSC Ensembl
Outerchr8:101715571..101717159hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381589
hg191589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737360
Supporting Variants
SamplesSSM096
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)essv6887545
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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