A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6743609



Internal ID10153445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100703332..100704921hg38UCSC Ensembl
Outerchr8:101715560..101717149hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381590
hg191590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737360
Supporting Variants
SamplesSSM053
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)essv6743609
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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