A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15102345



Internal ID5104161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:94176964..94375000hg38UCSC Ensembl
chr14:94643301..94841337hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38198037
hg19198037
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635377
Supporting Variants
SamplesNA06984
Known GenesPPP4R4, SERPINA10, SERPINA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15102345
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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