A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581986



Internal ID6706682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3556884..3556886hg38UCSC Ensembl
chr19:3556882..3556884hg19UCSC Ensembl
chr19:3507882..3507884hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009517
Supporting Variants
SamplesHuRef
Known GenesMFSD12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581986
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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