A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6716133



Internal ID10128001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17127307..17127709hg38UCSC Ensembl
Outerchr8:16984816..16985218hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736681
Supporting Variants
SamplesSSM043
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)essv6716133
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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