A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730998



Internal ID10314634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:163008344..163008680hg38UCSC Ensembl
Outerchr5:162435350..162435686hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6687136, essv6907384, essv6814198, essv6854354, essv6822322, essv6697826, essv6670920, essv6855017, essv6886903, essv6963481, essv6893371, essv6826245, essv6798697, essv6860645, essv6676414
SamplesSSM027, SSM011, SSM079, SSM087, SSM038, SSM088, SSM096, SSM035, SSM032, SSM031, SSM014, SSM072, SSM080, SSM077, SSM098
Known Genes
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)esv2730998
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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