A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545689



Internal ID18400079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207776669..207778439hg38UCSC Ensembl
Outerchr1:207776663..207778448hg38UCSC Ensembl
Innerchr1:207950014..207951784hg19UCSC Ensembl
Outerchr1:207950008..207951793hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381786
hg191786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744436
Samples
Known GenesCD46
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545689
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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