A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750328



Internal ID18724574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54523505..54523596hg38UCSC Ensembl
chr14:54990223..54990314hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551581
Supporting Variants
Samples
Known GenesCGRRF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750328
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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