A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544966



Internal ID18746042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199469688..199471007hg38UCSC Ensembl
Outerchr1:199469571..199471246hg38UCSC Ensembl
Innerchr1:199438816..199440135hg19UCSC Ensembl
Outerchr1:199438699..199440374hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381676
hg191676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9743713
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544966
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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