A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724052



Internal ID9958353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23461850..23462542hg38UCSC Ensembl
Outerchr22:23804037..23804729hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38693
hg19693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782743, essv6721793
SamplesSSM008, SSM044
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)esv2724052
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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