A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635518



Internal ID6675631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100832721..100966905hg38UCSC Ensembl
chr14:101299058..101433242hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38134185
hg19134185
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15108073
SamplesNA06984
Known GenesMEG3, MEG8, MIR127, MIR136, MIR337, MIR431, MIR432, MIR433, MIR493, MIR665, MIR770, RTL1, SNORD113-1, SNORD113-2, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635518
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer