A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9766092



Internal ID18393652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18260961..18261033hg38UCSC Ensembl
chr6:18261192..18261264hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3567345
Supporting Variants
Samples
Known GenesDEK
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9766092
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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