A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750000



Internal ID9984284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:89324901..89325373hg38UCSC Ensembl
Outerchr15:89868132..89868604hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803806, essv6699052, essv6673879, essv6862935, essv6831741, essv6851910, essv6857914, essv6916517, essv6900951
SamplesSSM100, SSM087, SSM038, SSM073, SSM088, SSM031, SSM086, SSM081, SSM016
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)esv2750000
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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