A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723655



Internal ID9957955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44422776..44423214hg38UCSC Ensembl
Outerchr21:45842659..45843097hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6816511, essv6718475, essv6729537, essv6913922, essv6801558, essv6928990, essv6949640, essv6937589, essv6668857, essv6744897, essv6846914, essv6832505, essv6666840, essv6761817, essv6707215, essv6735947, essv6733429, essv6764133
SamplesSSM046, SSM021, SSM047, SSM061, SSM029, SSM062, SSM019, SSM003, SSM006, SSM085, SSM081, SSM040, SSM072, SSM015, SSM053, SSM077, SSM049, SSM030
Known GenesTRPM2
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)esv2723655
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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