A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16403053



Internal ID4181803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30855313..30884216hg38UCSC Ensembl
chr22:31251300..31280203hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3828904
hg1928904
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647573
Supporting Variants
SamplesHG03777
Known GenesOSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16403053
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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