A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647325



Internal ID6687380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21955959..22114932hg38UCSC Ensembl
chr22:22310331..22469324hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38158974
hg19158994
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16371066, essv16371071, essv16371070, essv16371064, essv16371058, essv16371061, essv16371072, essv16371067, essv16371062, essv16371069, essv16371065, essv16371073, essv16371063, essv16371068, essv16371059, essv16371060
SamplesHG02891, HG02040, HG03680, HG03074, HG01779, HG02588, NA18990, HG00731, HG02793, HG00525, HG03367, HG01131, HG01991, NA21101, HG03716, HG02861
Known GenesTOP3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647325
Frequency
Sample Size2504
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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