A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15967922



Internal ID5969738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:640060..675990hg38UCSC Ensembl
chr19:640060..675990hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3835931
hg1935931
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643358
Supporting Variants
SamplesNA20317
Known GenesFGF22, RNF126
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15967922
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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