A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557684



Internal ID18412074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36490566..36490642hg38UCSC Ensembl
chr21:37862864..37862940hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756431
Samples
Known GenesCLDN14
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557684
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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