A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560748



Internal ID18761824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36283617..36283667hg38UCSC Ensembl
Outerchr1:36283616..36283668hg38UCSC Ensembl
Innerchr1:36749218..36749268hg19UCSC Ensembl
Outerchr1:36749217..36749269hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759495
Samples
Known GenesTHRAP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560748
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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