A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547644



Internal ID18402034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226978202..226978278hg38UCSC Ensembl
chr1:227165903..227165979hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746391
Samples
Known GenesADCK3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547644
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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