A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739011



Internal ID10322647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:122090069..122090346hg38UCSC Ensembl
Outerchr9:124852348..124852625hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672469, essv6923881
SamplesSSM018, SSM031
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)esv2739011
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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