A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9766466



Internal ID18394026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43647109..43647174hg38UCSC Ensembl
chr6:43614846..43614911hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3567719
Supporting Variants
Samples
Known GenesRSPH9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9766466
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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