A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647192



Internal ID7033933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16554021..16595350hg38UCSC Ensembl
chr22:17034911..17076240hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3841330
hg1941330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv818e214
Supporting Variantsessv16351478
SamplesHG01679
Known GenesCCT8L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647192
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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