A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542023



Internal ID18396413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:165667056..165667174hg38UCSC Ensembl
Outerchr1:165667050..165667180hg38UCSC Ensembl
Innerchr1:165636293..165636411hg19UCSC Ensembl
Outerchr1:165636287..165636417hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740770
Samples
Known GenesALDH9A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542023
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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