A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723041



Internal ID10306677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9043107..9043287hg38UCSC Ensembl
Outerchr21:9881940..9882120hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921586, essv6863801, essv6967719, essv6859001, essv6883164, essv6874604
SamplesSSM027, SSM087, SSM088, SSM017, SSM094, SSM091
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)esv2723041
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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