A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644630



Internal ID6684696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49877826..50039767hg38UCSC Ensembl
chr19:50381083..50543024hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38161942
hg19161942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16075311
SamplesHG02298
Known GenesAKT1S1, ATF5, IL4I1, MIR4750, MIR4751, NUP62, SIGLEC11, SIGLEC16, TBC1D17, VRK3, ZNF473
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644630
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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