A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547988



Internal ID18749064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229395109..229396142hg38UCSC Ensembl
Outerchr1:229395066..229396266hg38UCSC Ensembl
Innerchr1:229530856..229531889hg19UCSC Ensembl
Outerchr1:229530813..229532013hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746735
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547988
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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