A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785848



Internal ID18820815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99816910..99928316hg38UCSC Ensembl
Innerchr8:100829138..100940544hg19UCSC Ensembl
Innerchr8:100898314..101009720hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38111407
hg19111407
hg18111407
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891449
Supporting Variants
Samples
Known GenesCOX6C, VPS13B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=20
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785848
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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