A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15967960



Internal ID5969776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:794878..807625hg38UCSC Ensembl
chr19:794878..807625hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3812748
hg1912748
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643371
Supporting Variants
SamplesHG00350
Known GenesMIR4745, PTBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15967960
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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