A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9760377



Internal ID18734623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:25764591..25764672hg38UCSC Ensembl
chr3:25806082..25806163hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3561630
Supporting Variants
Samples
Known GenesNGLY1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9760377
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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