A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6846822



Internal ID9898935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:24288742..24669824hg38UCSC Ensembl
Outerchr22:24684710..25065791hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38381083
hg19381082
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724068
Supporting Variants
SamplesSSM085
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)essv6846822
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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