A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643358



Internal ID6683438
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15967922, essv15967923, essv15967921
SamplesNA20317, HG00867, NA20318
Known GenesFGF22, RNF126
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643358
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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