A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724055



Internal ID9958356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23502672..23502938hg38UCSC Ensembl
Outerchr22:23844859..23845125hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6875175, essv6725619, essv6925477, essv6880294
SamplesSSM045, SSM011, SSM093, SSM018
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)esv2724055
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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