A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3565560



Internal ID18419950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89010354..89012845hg38UCSC Ensembl
Outerchr1:89009936..89013002hg38UCSC Ensembl
Innerchr1:89476037..89478528hg19UCSC Ensembl
Outerchr1:89475619..89478685hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg383067
hg193067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9764307
Samples
Known GenesGBP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3565560
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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