A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1257424



Internal ID12073861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105442851..105442851hg38UCSC Ensembl
chr14:105909188..105909188hg19UCSC Ensembl
chr14:104980233..104980233hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3731935
SamplesHuRef
Known GenesMTA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1257424
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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