A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546811



Internal ID18747887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:218006680..218018195hg38UCSC Ensembl
Outerchr1:218005703..218018983hg38UCSC Ensembl
Innerchr1:218180022..218191537hg19UCSC Ensembl
Outerchr1:218179045..218192325hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3813281
hg1913281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9745558
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546811
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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