A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16403045



Internal ID6404861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30837437..30925653hg38UCSC Ensembl
chr22:31233424..31321640hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3888217
hg1988217
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647569
Supporting Variants
SamplesNA19455
Known GenesMORC2-AS1, OSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16403045
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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