A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15108104



Internal ID5282632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100972085..100982511hg38UCSC Ensembl
chr14:101438422..101448848hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3810427
hg1910427
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635520
Supporting Variants
SamplesNA18647
Known GenesSNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15108104
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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