A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790171



Internal ID19168115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41292238..41513043hg38UCSC Ensembl
Innerchr2:41519378..41740183hg19UCSC Ensembl
Innerchr2:41372882..41593687hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38220806
hg19220806
hg18220806
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891959
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=30
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790171
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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