A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787262



Internal ID18816883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18422620..18470107hg38UCSC Ensembl
Innerchr12:18575554..18623041hg19UCSC Ensembl
Innerchr12:18466821..18514308hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3847488
hg1947488
hg1847488
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892155
Supporting Variants
Samples
Known GenesPIK3C2G
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787262
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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