A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792398



Internal ID19175761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39866941..39968408hg38UCSC Ensembl
Innerchr2:40094081..40195548hg19UCSC Ensembl
Innerchr2:39947585..40049052hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38101468
hg19101468
hg18101468
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891882
Supporting Variants
Samples
Known GenesSLC8A1-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=29
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792398
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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