A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724733



Internal ID10308369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50025992..50026852hg38UCSC Ensembl
Outerchr22:50464421..50465281hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38861
hg19861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686047, essv6913851, essv6839824, essv6821033, essv6718120, essv6863793, essv6937515, essv6868587, essv6967704, essv6766457
SamplesSSM083, SSM027, SSM088, SSM021, SSM089, SSM006, SSM015, SSM078, SSM034, SSM063
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)esv2724733
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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