A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561793



Internal ID18762869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49448844..49532370hg38UCSC Ensembl
Outerchr1:49441287..49535828hg38UCSC Ensembl
Innerchr1:49914516..49998042hg19UCSC Ensembl
Outerchr1:49906959..50001500hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3894542
hg1994542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760540
Samples
Known GenesAGBL4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561793
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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