A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750181



Internal ID10331151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:101213295..101216195hg38UCSC Ensembl
Outerchr15:101753500..101756400hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772534, essv6673913, essv6888347, essv6882670, essv6678273, essv6806727, essv6851937, essv6966532, essv6879808, essv6862952
SamplesSSM027, SSM065, SSM093, SSM074, SSM088, SSM096, SSM094, SSM032, SSM031, SSM086
Known GenesCHSY1
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)esv2750181
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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