A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739012



Internal ID10322648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:122090125..122090200hg38UCSC Ensembl
Outerchr9:124852404..124852479hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672469
SamplesSSM031
Known GenesTTLL11
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)esv2739012
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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