A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724734



Internal ID10308370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50026315..50026498hg38UCSC Ensembl
Outerchr22:50464744..50464927hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686047, essv6821033, essv6863793, essv6868587, essv6967704
SamplesSSM027, SSM088, SSM089, SSM078, SSM034
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)esv2724734
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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