A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571902



Internal ID6696598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35116755..35116755hg38UCSC Ensembl
chr19:35607659..35607659hg19UCSC Ensembl
chr19:40299499..40299499hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002416
Supporting Variants
SamplesHuRef
Known GenesFXYD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571902
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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