A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16075246



Internal ID6075674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49861781..49908526hg38UCSC Ensembl
chr19:50365038..50411783hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3846746
hg1946746
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644628
Supporting Variants
SamplesHG02298
Known GenesAKT1S1, IL4I1, MIR4750, NUP62, PNKP, TBC1D17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16075246
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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