A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723204



Internal ID9957504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:17347672..17353896hg38UCSC Ensembl
Outerchr21:18719991..18726215hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg386225
hg196225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972159, essv6784852, essv6718265, essv6874621, essv6807291, essv6913881
SamplesSSM074, SSM028, SSM006, SSM068, SSM015, 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)esv2723204
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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