A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9752656



Internal ID18380216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89649132..89649197hg38UCSC Ensembl
chr16:89715540..89715605hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3553909
Supporting Variants
Samples
Known GenesCHMP1A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9752656
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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