A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15039401



Internal ID5041217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63305196..63388109hg38UCSC Ensembl
chr14:63771914..63854827hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3882914
hg1982914
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634723
Supporting Variants
SamplesNA06989
Known GenesGPHB5, PPP2R5E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15039401
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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