A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562426



Internal ID18416816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3146467..3146814hg38UCSC Ensembl
Outerchr1:3146432..3146899hg38UCSC Ensembl
Innerchr1:3063031..3063378hg19UCSC Ensembl
Outerchr1:3062996..3063463hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761173
Samples
Known GenesPRDM16
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562426
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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