A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790228



Internal ID18820812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17539788..18350960hg38UCSC Ensembl
Innerchr12:17692722..18503894hg19UCSC Ensembl
Innerchr12:17583989..18395161hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38811173
hg19811173
hg18811173
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892152
Supporting Variants
Samples
Known GenesMIR3974, PIK3C2G, RERGL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=155
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790228
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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