A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724068



Internal ID9958369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:24288741..24669870hg38UCSC Ensembl
Outerchr22:24684709..25065837hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38381130
hg19381129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967620, essv6769341, essv6696799, essv6846822
SamplesSSM027, SSM064, SSM085, SSM037
Known GenesADORA2A, ADORA2A-AS1, BCRP3, FAM211B, GGT1, GUCD1, POM121L10P, SNRPD3, SPECC1L, SPECC1L-ADORA2A, UPB1
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)esv2724068
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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