A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631919



Internal ID6672044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43144920..43295829hg38UCSC Ensembl
chr13:43719056..43869965hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38150910
hg19150910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14710097, essv14710099, essv14710098
SamplesHG01142, NA19461, NA19035
Known GenesENOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631919
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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