A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3565837



Internal ID18420227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92745101..92745161hg38UCSC Ensembl
chr1:93210658..93210718hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9764584
Samples
Known GenesEVI5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3565837
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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