A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857775



Internal ID4845704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45974869..45987813hg38UCSC Ensembl
chr18:43554835..43567779hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3812945
hg1912945
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642418
Supporting Variants
SamplesNA12234
Known GenesPSTPIP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857775
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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