A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999186



Internal ID6735111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:68017838..68032369hg38UCSC Ensembl
Outerchr3:68066982..68081519hg19UCSC Ensembl
Outerchr3:68149672..68164209hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg389424
hg199424
hg189424
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563517
SamplesHuRef
Known GenesFAM19A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999186
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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