A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15855560



Internal ID5857376
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642341
Supporting Variants
SamplesNA12004
Known GenesPIK3C3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15855560
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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