A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738430



Internal ID10322066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:36852575..36853011hg38UCSC Ensembl
Outerchr9:36852572..36853008hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912098
SamplesSSM015
Known GenesPAX5
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)esv2738430
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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