A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838002



Internal ID9891186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18793934..18794922hg38UCSC Ensembl
Outerchr8:18651444..18652432hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38989
hg19989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736703
Supporting Variants
SamplesSSM083
Known GenesPSD3
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)essv6838002
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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