A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750316



Internal ID18724562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52900163..52900252hg38UCSC Ensembl
chr14:53366881..53366970hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551569
Supporting Variants
Samples
Known GenesFERMT2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750316
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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