A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788264



Internal ID19163664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:102669770..102760763hg38UCSC Ensembl
Innerchr12:103063548..103154541hg19UCSC Ensembl
Innerchr12:101587678..101678671hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3890994
hg1990994
hg1890994
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892261
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=33
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788264
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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