A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6727802



Internal ID9791817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141429503..141430029hg38UCSC Ensembl
Outerchr8:142439603..142440129hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737756, esv2737782
Supporting Variants
SamplesSSM046
Known GenesPTP4A3
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)essv6727802
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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