A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569781



Internal ID6694477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105442795..105442795hg38UCSC Ensembl
chr14:105909132..105909132hg19UCSC Ensembl
chr14:104980177..104980177hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998455
Supporting Variants
SamplesHuRef
Known GenesMTA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569781
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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