A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891882



Internal ID19186278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39866941..39968408hg38UCSC Ensembl
Outerchr2:39866941..39968408hg38UCSC Ensembl
Innerchr2:40094081..40195548hg19UCSC Ensembl
Outerchr2:40094081..40195548hg19UCSC Ensembl
Innerchr2:39947585..40049052hg18UCSC Ensembl
Outerchr2:39947585..40049052hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38101468
hg19101468
hg18101468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792398
Samples
Known GenesSLC8A1-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891882
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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