A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6768160



Internal ID10174493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:89471573..89472019hg38UCSC Ensembl
Outerchr9:92086488..92086934hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738735
Supporting Variants
SamplesSSM064
Known GenesSEMA4D
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)essv6768160
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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