A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672469



Internal ID10090937
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 StatusS
Merged Variantsesv2739011, esv2739012
Supporting Variants
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)essv6672469
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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