A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642341



Internal ID6682422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41818170..41981419hg38UCSC Ensembl
chr18:39398135..39561383hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38163250
hg19163249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15855560, essv15855559
SamplesNA11829, NA12004
Known GenesPIK3C3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642341
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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