A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724458



Internal ID9958760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46940636..46940862hg38UCSC Ensembl
Outerchr22:47336532..47336758hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6895701, essv6801462, essv6839801, essv6674989, essv6729450, essv6692593, essv6950353, essv6766446, essv6725659, essv6824796, essv6707140, essv6810237
SamplesSSM036, SSM040, SSM031, SSM072, SSM024, SSM045, SSM083, SSM063, SSM046, SSM079, SSM075, SSM098
Known GenesTBC1D22A
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)esv2724458
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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