A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999483



Internal ID6735408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105439154..105439154hg38UCSC Ensembl
chr14:105905491..105905491hg19UCSC Ensembl
chr14:104976536..104976536hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3577060
SamplesHuRef
Known GenesMTA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999483
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer