A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749999



Internal ID10330969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:89324721..89325880hg38UCSC Ensembl
Outerchr15:89867952..89869111hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg381160
hg191160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758532, essv6803806, essv6706594, essv6699052, essv6673879, essv6862935, essv6831741, essv6851910, essv6752883, essv6857914, essv6744335, essv6916517, essv6763661, essv6900951
SamplesSSM100, SSM059, SSM087, SSM038, SSM073, SSM088, SSM057, SSM062, SSM031, SSM086, SSM081, SSM040, SSM016, SSM053
Known GenesPOLG
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)esv2749999
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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