A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723324



Internal ID10306960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:30741806..30742858hg38UCSC Ensembl
Outerchr21:32114124..32115176hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv706e201
Supporting Variantsessv6773339, essv6868634, essv6972178, essv6793175, essv6789023, essv6666790, essv6913891, essv6780741, essv6828902, essv6917320, essv6839855, essv6718059, essv6776827, essv6729516, essv6725735, essv6703744, essv6967775, essv6836063
SamplesSSM083, SSM027, SSM045, SSM046, SSM065, SSM039, SSM028, SSM069, SSM029, SSM089, SSM067, SSM066, SSM082, SSM015, SSM016, SSM080, SSM070, SSM043
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)esv2723324
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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