A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15099856



Internal ID4723180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93639008..93743667hg38UCSC Ensembl
chr14:94105354..94210013hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38104660
hg19104660
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635362
Supporting Variants
SamplesNA06984
Known GenesPRIMA1, UNC79
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15099856
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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