A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545800



Internal ID18400190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:209762090..209762730hg38UCSC Ensembl
Outerchr1:209761968..209762827hg38UCSC Ensembl
Innerchr1:209935435..209936075hg19UCSC Ensembl
Outerchr1:209935313..209936172hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38860
hg19860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744547
Samples
Known GenesTRAF3IP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545800
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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