A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888347



Internal ID10283171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:101213295..101216187hg38UCSC Ensembl
Outerchr15:101753500..101756392hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg382893
hg192893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750181
Supporting Variants
SamplesSSM096
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)essv6888347
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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