A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723323



Internal ID10306959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:30741745..30742429hg38UCSC Ensembl
Outerchr21:32114063..32114747hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv705e201
Supporting Variantsessv6789023, essv6780741, essv6828902, essv6718059, essv6729516, essv6696913, essv6703744, essv6836063
SamplesSSM046, SSM039, SSM069, SSM067, SSM082, SSM080, SSM037, 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)esv2723323
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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