A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789823



Internal ID18828787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71785292..71886804hg38UCSC Ensembl
Innerchr12:72179072..72280584hg19UCSC Ensembl
Innerchr12:70465339..70566851hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38101513
hg19101513
hg18101513
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892218
Supporting Variants
Samples
Known GenesMRS2P2, RAB21, TBC1D15
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=26
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789823
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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