A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647462



Internal ID7034203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25323914..25521686hg38UCSC Ensembl
chr22:25719881..25917653hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38197773
hg19197773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv831e214
Supporting Variantsessv16394963
SamplesHG02968
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647462
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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