A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1296512



Internal ID12112949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104884593..104884696hg38UCSC Ensembl
chr14:105350930..105351033hg19UCSC Ensembl
chr14:104421975..104422078hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38104
hg19104
hg18104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4127996
SamplesHuRef
Known GenesCEP170B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1296512
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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