A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542045



Internal ID18396435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165708162..165708212hg38UCSC Ensembl
chr1:165677399..165677449hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740792
Samples
Known GenesLOC440700
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542045
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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