A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1552947



Internal ID12369382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88711382..88711382hg38UCSC Ensembl
chr14:89177726..89177726hg19UCSC Ensembl
chr14:88247479..88247479hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg381391
hg191391
hg181391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3682983
SamplesHuRef
Known GenesEML5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1552947
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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