A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15103388



Internal ID5105204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:95324080..95552963hg38UCSC Ensembl
chr14:95790417..96019300hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38228884
hg19228884
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635400
Supporting Variants
SamplesHG01052
Known GenesGLRX5, LINC00341, SCARNA13, SNHG10, SYNE3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15103388
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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