A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547277



Internal ID18401667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:222887522..222887778hg38UCSC Ensembl
Outerchr1:222887463..222887830hg38UCSC Ensembl
Innerchr1:223060864..223061120hg19UCSC Ensembl
Outerchr1:223060805..223061172hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746024
Samples
Known GenesDISP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547277
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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