A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798968



Internal ID19180284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4757975..4763997hg38UCSC Ensembl
Innerchr12:4867141..4873163hg19UCSC Ensembl
Innerchr12:4737402..4743424hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg386023
hg196023
hg186023
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892128
Supporting Variants
Samples
Known GenesGALNT8
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798968
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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