A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723326



Internal ID10306962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:30741906..30742651hg38UCSC Ensembl
Outerchr21:32114224..32114969hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38746
hg19746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv706e201
Supporting Variantsessv6773339, essv6868634, essv6972178, essv6793175, essv6913891, essv6780741, essv6828902, essv6917320, essv6839855, essv6729516, essv6725735, essv6703744, essv6967775
SamplesSSM083, SSM027, SSM045, SSM046, SSM065, SSM039, SSM028, SSM089, SSM067, SSM015, SSM016, SSM080, SSM070
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)esv2723326
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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