A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15063982



Internal ID2189121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75165714..75195959hg38UCSC Ensembl
chr14:75632417..75662662hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3830246
hg1930246
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634955
Supporting Variants
SamplesHG01974
Known GenesTMED10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15063982
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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