A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546478



Internal ID18400868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215021384..215021437hg38UCSC Ensembl
chr1:215194727..215194780hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9745225
Samples
Known GenesKCNK2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546478
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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