A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792297



Internal ID19161756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:386051..528197hg38UCSC Ensembl
Innerchr12:495217..637363hg19UCSC Ensembl
Innerchr12:365478..507624hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38142147
hg19142147
hg18142147
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892121
Supporting Variants
Samples
Known GenesB4GALNT3, CCDC77, KDM5A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=49
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792297
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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