A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15098084



Internal ID5099900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92495867..92673766hg38UCSC Ensembl
chr14:92962211..93140111hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38177900
hg19177901
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635340
Supporting Variants
SamplesNA06984
Known GenesRIN3, SLC24A4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15098084
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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