A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16430130



Internal ID6431946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41574227..41593225hg38UCSC Ensembl
chr22:41970231..41989229hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3818999
hg1918999
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647800
Supporting Variants
SamplesNA07357
Known GenesCSDC2, PMM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16430130
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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