A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15980353



Internal ID5982169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4137148..4158957hg38UCSC Ensembl
chr19:4137145..4158954hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3821810
hg1921810
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643488
Supporting Variants
SamplesHG01992
Known GenesCREB3L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15980353
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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