A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724475



Internal ID9958777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:47069847..47070038hg38UCSC Ensembl
Outerchr22:47465743..47465934hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710448, essv6858962
SamplesSSM041, SSM087
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)esv2724475
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer