A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724059



Internal ID9958360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23622666..23622838hg38UCSC Ensembl
Outerchr22:23964853..23965025hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863732, essv6793053, essv6972044
SamplesSSM088, SSM028, SSM070
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)esv2724059
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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