A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3552069



Internal ID18406459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102045390..102045457hg38UCSC Ensembl
chr14:102511727..102511794hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9750816
Samples
Known GenesDYNC1H1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3552069
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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