A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791012



Internal ID19170637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11488750..11634988hg38UCSC Ensembl
Innerchr12:11641684..11787922hg19UCSC Ensembl
Innerchr12:11532951..11679189hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38146239
hg19146239
hg18146239
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892143
Supporting Variants
Samples
Known GenesLOC338817
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=43
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791012
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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