A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14404197



Internal ID4406013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20486074..20517651hg38UCSC Ensembl
chr12:20639008..20670585hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3831578
hg1931578
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628784
Supporting Variants
SamplesHG01985
Known GenesPDE3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14404197
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