A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562982



Internal ID18417372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62278313..62278377hg38UCSC Ensembl
chr1:62743985..62744049hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761729
Samples
Known GenesKANK4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562982
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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