A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635350



Internal ID6675463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93053897..93184718hg38UCSC Ensembl
chr14:93520242..93651063hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38130822
hg19130822
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15098807
SamplesNA06984
Known GenesITPK1, ITPK1-AS1, MOAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635350
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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