A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15969606



Internal ID5971422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2720377..2727477hg38UCSC Ensembl
chr19:2720375..2727475hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387101
hg197101
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643436
Supporting Variants
SamplesNA19393
Known GenesDIRAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15969606
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