A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9760540



Internal ID18734786
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 StatusS
Merged Variantsesv3561793
Supporting Variants
Samples
Known GenesAGBL4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9760540
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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