A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724103



Internal ID10307739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:27221021..27221489hg38UCSC Ensembl
Outerchr22:27616982..27617450hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733295, essv6863739, essv6699462, essv6950311
SamplesSSM024, SSM038, SSM088, SSM047
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)esv2724103
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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