A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787244



Internal ID19177223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41940168..41948404hg38UCSC Ensembl
Innerchr22:42336172..42344408hg19UCSC Ensembl
Innerchr22:40666118..40674354hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg388237
hg198237
hg188237
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893485
Supporting Variants
Samples
Known GenesCENPM
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787244
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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