A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15991981



Internal ID5818223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12389549..12433614hg38UCSC Ensembl
chr19:12500363..12544428hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3844066
hg1944066
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643701
Supporting Variants
SamplesNA19197
Known GenesZNF443, ZNF799
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15991981
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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