A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1287990



Internal ID12104426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105439174..105439174hg38UCSC Ensembl
chr14:105905511..105905511hg19UCSC Ensembl
chr14:104976556..104976556hg18UCSC 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 Variantsessv4257836
SamplesHuRef
Known GenesMTA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1287990
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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