A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1730768



Internal ID12547200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91293353..91293353hg38UCSC Ensembl
chr14:91759697..91759697hg19UCSC Ensembl
chr14:90829450..90829450hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4085389
SamplesHuRef
Known GenesCCDC88C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1730768
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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