A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893463



Internal ID18837597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24009046..24601506hg38UCSC Ensembl
Outerchr22:24009046..24601506hg38UCSC Ensembl
Innerchr22:24405492..24997473hg19UCSC Ensembl
Outerchr22:24405492..24997473hg19UCSC Ensembl
Innerchr22:22735492..23327473hg18UCSC Ensembl
Outerchr22:22735492..23327473hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38592461
hg19591982
hg18591982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788819
Samples
Known GenesADORA2A, ADORA2A-AS1, CABIN1, FAM211B, GGT1, GGT5, GUCD1, POM121L9P, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SUSD2, UPB1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893463
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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