A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15103225



Internal ID5105041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:94569665..94707857hg38UCSC Ensembl
chr14:95036002..95174194hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38138193
hg19138193
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635384
Supporting Variants
SamplesNA06984
Known GenesSERPINA13P, SERPINA3, SERPINA4, SERPINA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15103225
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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