A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715191



Internal ID9949477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89649037..89649389hg38UCSC Ensembl
Outerchr16:89715445..89715797hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913224, essv6953903, essv6788411, essv6945647, essv6888497, essv6674167, essv6780060, essv6806829, essv6920857, essv6936846
SamplesSSM031, SSM025, SSM067, SSM017, SSM069, SSM021, SSM096, SSM023, SSM074, SSM015
Known GenesCHMP1A
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)esv2715191
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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