A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724058



Internal ID9958359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23617669..23623610hg38UCSC Ensembl
Outerchr22:23959856..23965797hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg385942
hg195942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753374, essv6892164, essv6694632, essv6941537
SamplesSSM097, SSM057, SSM005, SSM022
Known GenesC22orf43
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)esv2724058
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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