A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561382



Internal ID18762458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43391802..43392053hg38UCSC Ensembl
Outerchr1:43391772..43392120hg38UCSC Ensembl
Innerchr1:43857473..43857724hg19UCSC Ensembl
Outerchr1:43857443..43857791hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760129
Samples
Known GenesSZT2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561382
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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