A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347804



Internal ID14848069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3409528..3410226hg38UCSC Ensembl
Innerchr1:3409527..3410227hg38UCSC Ensembl
Outerchr1:3408528..3411226hg38UCSC Ensembl
chr1:3326092..3326790hg19UCSC Ensembl
Innerchr1:3326091..3326791hg19UCSC Ensembl
Outerchr1:3325092..3327790hg19UCSC Ensembl
chr1:3315952..3316650hg18UCSC Ensembl
Innerchr1:3316651..3315951hg18UCSC Ensembl
Outerchr1:3314952..3317650hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692301
SamplesNA19239
Known GenesPRDM16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347804
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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