A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561171



Internal ID18415561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40642776..40642881hg38UCSC Ensembl
Outerchr1:40642764..40642882hg38UCSC Ensembl
Innerchr1:41108448..41108553hg19UCSC Ensembl
Outerchr1:41108436..41108554hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759918
Samples
Known GenesRIMS3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561171
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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