A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578286



Internal ID6702982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105442850..105442850hg38UCSC Ensembl
chr14:105909187..105909187hg19UCSC Ensembl
chr14:104980232..104980232hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996317
Supporting Variants
SamplesHuRef
Known GenesMTA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578286
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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