A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16100319



Internal ID2846915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55030893..55138732hg38UCSC Ensembl
chr19:55542261..55650100hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38107840
hg19107840
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644829
Supporting Variants
SamplesHG02511
Known GenesEPS8L1, GP6, PPP1R12C, RDH13, TNNT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16100319
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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