A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789832



Internal ID18813241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85305039..88102633hg38UCSC Ensembl
Innerchr12:85698817..88496410hg19UCSC Ensembl
Innerchr12:84222948..87020541hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg382797595
hg192797594
hg182797594
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892241
Supporting Variants
Samples
Known GenesC12orf29, C12orf50, CEP290, MGAT4C, MIR548AL, MKRN9P, NTS, RASSF9
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=361
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789832
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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