A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723118



Internal ID10306754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10778342..10778769hg38UCSC Ensembl
Outerchr21:10733688..10734115hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859021, essv6714114, essv6696892, essv6933170, essv6909931, essv6725715, essv6747692, essv6721866, essv6877595, essv6729491, essv6950403, essv6801505, essv6679023, essv6954563, essv6967741
SamplesSSM027, SSM024, SSM045, SSM046, SSM087, SSM042, SSM092, SSM032, SSM044, SSM014, SSM072, SSM020, SSM037, SSM055, SSM025
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)esv2723118
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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