A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789047



Internal ID18825473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71785292..71882870hg38UCSC Ensembl
Innerchr12:72179072..72276650hg19UCSC Ensembl
Innerchr12:70465339..70562917hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3897579
hg1997579
hg1897579
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=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789047
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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