A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16075609



Internal ID6077425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49956953..50034451hg38UCSC Ensembl
chr19:50460210..50537708hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3877499
hg1977499
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644635
Supporting Variants
SamplesHG02298
Known GenesSIGLEC11, SIGLEC16, VRK3, ZNF473
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16075609
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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