A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546567



Internal ID18400957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216011989..216012134hg38UCSC Ensembl
Outerchr1:216011962..216012162hg38UCSC Ensembl
Innerchr1:216185331..216185476hg19UCSC Ensembl
Outerchr1:216185304..216185504hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9745314
Samples
Known GenesUSH2A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546567
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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