A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619498



Internal ID7006372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:8864920..8872372hg38UCSC Ensembl
chr9:8864920..8872372hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg387453
hg197453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13395492, essv13395490, essv13395491, essv13395489
SamplesNA18881, NA19068, NA18966, NA19078
Known GenesPTPRD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619498
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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