A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15967962



Internal ID5969778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:794878..807625hg38UCSC Ensembl
chr19:794878..807625hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3812748
hg1912748
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643372
Supporting Variants
SamplesHG00867
Known GenesMIR4745, PTBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15967962
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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