A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723086



Internal ID10306722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10798761..10799352hg38UCSC Ensembl
Outerchr21:10713105..10713696hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv688e201
Supporting Variantsessv6961298, essv6788994, essv6946334, essv6729483, essv6689162, essv6888902, essv6967733, essv6725702, essv6832450, essv6868609, essv6853045, essv6824829, essv6925560, essv6710480, essv6714105, essv6828875, essv6895737, essv6917290, essv6721856, essv6810253, essv6859017
SamplesSSM027, SSM075, SSM045, SSM046, SSM079, SSM087, SSM042, SSM041, SSM023, SSM018, SSM069, SSM096, SSM026, SSM089, SSM035, SSM044, SSM086, SSM081, SSM016, SSM080, 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)esv2723086
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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