A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15114579



Internal ID5255794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103816641..103840771hg38UCSC Ensembl
chr14:104282978..104307108hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3824131
hg1924131
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635609
Supporting Variants
SamplesNA18636
Known GenesPPP1R13B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15114579
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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