A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562915



Internal ID18417305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62133149..62133219hg38UCSC Ensembl
chr1:62598821..62598891hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761662
Samples
Known GenesINADL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562915
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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