A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15855562



Internal ID5857378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41818170..41981419hg38UCSC Ensembl
chr18:39398135..39561383hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38163250
hg19163249
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642342
Supporting Variants
SamplesHG02142
Known GenesPIK3C3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15855562
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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