A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893445



Internal ID18837579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22024669..22164218hg38UCSC Ensembl
Outerchr22:21960091..22219245hg38UCSC Ensembl
Innerchr22:22379067..22518611hg19UCSC Ensembl
Outerchr22:22314463..22573637hg19UCSC Ensembl
Innerchr22:20709067..20848611hg18UCSC Ensembl
Outerchr22:20644463..20903637hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38259155
hg19259175
hg18259175
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785221, essv25787834, essv25782551, essv25788912, essv25789406, essv25788980, essv25789362, essv25778835, essv25789426, essv25791687, essv25788755, essv25789256, essv25789195, essv25789982, essv25787840, essv25789378, essv25790976, essv25791473, essv25789063, essv25790773, essv25788984, essv25791231
Samples
Known GenesTOP3B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893445
Frequency
Sample Size3017
Observed Gain19
Observed Loss3
Observed Complex0
Frequencyn/a


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