A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634795



Internal ID6674909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66933301..66939862hg38UCSC Ensembl
chr14:67400018..67406579hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg386562
hg196562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15046065, essv15046062, essv15046067, essv15046063, essv15046066, essv15046064
SamplesHG03653, HG03941, NA21097, NA20852, HG04134, NA20846
Known GenesGPHN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634795
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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