A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585040



Internal ID6625358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3228160..3293218hg38UCSC Ensembl
chr1:3144724..3209782hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3865059
hg1965059
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841970
SamplesHG01063
Known GenesPRDM16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585040
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