A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724481



Internal ID9958783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:47144703..47144896hg38UCSC Ensembl
Outerchr22:47540346..47540539hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666693, essv6686027, essv6707144, essv6967678, essv6858963
SamplesSSM027, SSM040, SSM029, SSM034, 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)esv2724481
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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