A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850262



Internal ID10248718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120669453..120669748hg38UCSC Ensembl
Outerchr8:121681693..121681988hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737504
Supporting Variants
SamplesSSM086
Known GenesSNTB1
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)essv6850262
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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