A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642345



Internal ID7029115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41984195..42004701hg38UCSC Ensembl
chr18:39564159..39584665hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3820507
hg1920507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15855567, essv15855566
SamplesHG02142, HG01852
Known GenesPIK3C3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642345
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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