A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892241



Internal ID18836375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85305039..88102633hg38UCSC Ensembl
Outerchr12:85305039..88102633hg38UCSC Ensembl
Innerchr12:85698817..88496410hg19UCSC Ensembl
Outerchr12:85698817..88496410hg19UCSC Ensembl
Innerchr12:84222948..87020541hg18UCSC Ensembl
Outerchr12:84222948..87020541hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg382797595
hg192797594
hg182797594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789832
Samples
Known GenesC12orf29, C12orf50, CEP290, MGAT4C, MIR548AL, MKRN9P, NTS, RASSF9
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892241
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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