A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546011



Internal ID18400401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:211289417..211289520hg38UCSC Ensembl
Outerchr1:211289415..211289532hg38UCSC Ensembl
Innerchr1:211462759..211462862hg19UCSC Ensembl
Outerchr1:211462757..211462874hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744758
Samples
Known GenesRCOR3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546011
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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