A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724061



Internal ID9958362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23712385..23712945hg38UCSC Ensembl
Outerchr22:24054572..24055132hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967617, essv6710414, essv6666620, essv6858897, essv6842520, essv6913772, essv6761733
SamplesSSM027, SSM087, SSM041, SSM061, SSM029, SSM015, SSM010
Known GenesGUSBP11
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)esv2724061
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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