A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788379



Internal ID19174689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18938243..19028300hg38UCSC Ensembl
Innerchr12:19091177..19181234hg19UCSC Ensembl
Innerchr12:18982444..19072501hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3890058
hg1990058
hg1890058
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892156
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=24
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788379
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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